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Fetal anomalies v4.35 STAT3 Stephanie Allen reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31771449, 34366294, 30617622; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952, Hyper-IgE recurrent infection syndrome, OMIM:147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SPTB Stephanie Allen reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 33761640, 33082562, 35819869; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPTA1 Samantha Doyle reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPRED2 Samantha Doyle reviewed gene: SPRED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34626534, 36394128; Phenotypes: Noonan syndrome 14, OMIM:619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPINT2 Lyn Chitty reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185281, 24142340, 30445423, 20009592, 33374714, 33029133, 33547739; Phenotypes: congenital secretory sodium diarrhea 3, MONDO:0010036, Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPEN Samantha Doyle reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome, OMIM:619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SOX11 Natalie Canham reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 33785884, 24886874, 31530938, 33086258, 33430815; Phenotypes: Coffin-Siris syndrome 9, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SNAP29 Natalie Bibb reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: 28388629, 15968592, 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528, CEDNIK syndrome, MONDO:0012290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SMARCD1 Natalie Chandler reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879640; Phenotypes: Coffin-Siris syndrome 11, OMIM:618779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SMARCAL1 Anna de Burca reviewed gene: SMARCAL1: Rating: RED; Mode of pathogenicity: ; Publications: 20301550, 20036229, 17089404, 15523612; Phenotypes: Schimke immunoosseous dysplasia, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SMAD6 Esther Kinning reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 22275001, 31138930, 32499606, 27606499; Phenotypes: {Craniosynostosis 7, susceptibility to}, OMIM:617439, Aortic valve disease 2, OMIM:614823, {Radioulnar synostosis, nonsyndromic}, OMIM:179300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SMAD2 Denise Williams reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157302, 29967133, 23665959; Phenotypes: Loeys-Dietz syndrome 6, OMIM:619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SLC5A5 Achchuthan Shanmugasundram reviewed gene: SLC5A5: Rating: RED; Mode of pathogenicity: ; Publications: 32805706, 34726525, 34806438, 33815280, 31115276; Phenotypes: Thyroid dyshormonogenesis 1, OMIM:274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC4A1 Lyn Chitty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 24652967; Phenotypes: Ovalocytosis, SA type, OMIM:166900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC25A26 Anna de Burca reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: 26522469, 33082562; Phenotypes: Combined oxidative phosphorylation deficiency 28, OMIM:616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC22A5 Natalie Canham reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Primary carnitine deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC20A1 Stephanie Allen reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SKIV2L Samantha Doyle reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444670, 27431780; Phenotypes: Trichohepatoenteric syndrome 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SIN3A Lyn Chitty reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM:613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SHMT2 Natalie Chandler reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33015733; Phenotypes: Polymicrogyria, corpus callosum anomalies, Microcephaly, Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SF3B2 Natalie Canham reviewed gene: SF3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34344887, 37555391; Phenotypes: Craniofacial microsomia, OMIM:164210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SERPINA11 Natalie Bibb reviewed gene: SERPINA11: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: SERPINA11-prenatal lethal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SEMA3A Natalie Bibb reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301509, 22927827, 24124006, 33369061, 21059704, 28075028; Phenotypes: skeletal anomalies, {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1G Anna de Burca reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: ; Publications: 31522814, 11231969, 8640238, 7633160; Phenotypes: Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1B Esther Kinning reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 8589714; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1A Denise Williams reviewed gene: SCNN1A: Rating: RED; Mode of pathogenicity: ; Publications: 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCN5A Achchuthan Shanmugasundram reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19419784, 22064211, 15184283; Phenotypes: Sudden infant death syndrome, susceptibility to - #272120, Long QT syndrome 3 - #603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SCN3A Stephanie Allen reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740860, 32515017, 30146301; Phenotypes: Epileptic encephalopathy, early infantile, 62, OMIM:617938, Epilepsy, familial focal, with variable foci 4, OMIM:617935, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SCAF4 Natalie Chandler reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: Neurodevelopmental disorder MONDO#0700092, SCAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RPL15 Lyn Chitty reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23812780, 20301769, 29599205; Phenotypes: Diamond-Blackfan anemia 12, OMIM:615550, multiple congenital malformations, hydrops; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RNU12 Natalie Chandler reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085356; Phenotypes: Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations, CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RNF125 Natalie Canham reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: ; Publications: 25196541; Phenotypes: Tenorio syndrome, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RNF113A Natalie Bibb reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25612912, 31793730, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM:300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 RLIM Anna de Burca reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, OMIM:300978; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 RIN2 Esther Kinning reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 20954239, 30769224, 20424861, 24449201, 19631308; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RHOA Esther Kinning reviewed gene: RHOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RHEB Denise Williams reviewed gene: RHEB: Rating: RED; Mode of pathogenicity: ; Publications: 29051493, 31337748; Phenotypes: Macrocephaly, Intellectual disability, Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RBP4 Achchuthan Shanmugasundram reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29178648, 25910211; Phenotypes: Microphthalmia, isolated, with coloboma 10 MIM#616428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAP1B Stephanie Allen reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: ; Publications: 26280580, 32627184; Phenotypes: Syndromic intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAD51C Natalie Chandler reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RAD51 Lyn Chitty reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: ; Publications: 26681308, 30907510, 26253028; Phenotypes: Fanconi anaemia, complementation group R, OMIM:617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAD50 Natalie Chandler reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: ; Publications: 33378670, 32212377, 19409520; Phenotypes: MONDO:0013118, Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RAB11B Natalie Canham reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 QARS Natalie Bibb reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 24656866, 25432320, 25041233, 32042906, 25471517, 28620870; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PXDN Anna de Burca reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31817535, 24939590, 32224865, 21907015, 32015378, 32499604; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PTPN23 Esther Kinning reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899372, 29090338, 25558065, 31395947, 27848944; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PRR12 Denise Williams reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 33314030; Phenotypes: Neuroocular syndrome, OMIM:619539, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PRF1 Natalie Chandler reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19595804, 26199792, 30070073; Phenotypes: Aplastic anaemia, OMIM:609135, Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP3CA Anna de Burca reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967, 33082562, 29432562; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPP2R3C Lyn Chitty reviewed gene: PPP2R3C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30893644, 34714774, 34750818; Phenotypes: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP2CA Natalie Chandler reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPP1R13L Natalie Canham reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy, Cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP1R12A Natalie Bibb reviewed gene: PPP1R12A: Rating: RED; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: holoprosencephaly, disorder of sex development, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPIL1 Anna de Burca reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 14, OMIM:619301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 POLD1 Esther Kinning reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23770608; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PLPBP Denise Williams reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 31741821, 30668673, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLOD3 Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 18834968, 30237576; Phenotypes: Lysyl hydroxylase 3 deficiency, OMIM:612394, Stickler-syndrome like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLEC Stephanie Allen reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28824526, 31509265, 22144912, 21263134, 21109228, 20624679; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950, Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138, Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLAA Lyn Chitty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PKP2 Esther Kinning reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Severe cardiomyopathy with left ventricular noncompaction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PIGH Natalie Chandler reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052, 33156547, 35445667; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PIDD1 Natalie Canham reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379, 28397838, 34163010, 29302074; Phenotypes: Global developmental delay, Seizures, Behavioral abnormality, Abnormality of the corpus callosum, Autism, Intellectual disability, Lissencephaly, Pachygyria, Psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PI4KA Natalie Bibb reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PHF21A Anna de Burca reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31649809, 30487643, 22770980; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PHEX Esther Kinning reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: 9106524, 16055933, 19219621, 29791829; Phenotypes: Hypophosphatemic rickets, X-linked dominant, OMIM:307800; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 PGAP1 Denise Williams reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 25823418, 25804403, 26050939, 24784135; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PDE6D Achchuthan Shanmugasundram reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: 30423442, 24166846; Phenotypes: Joubert syndrome 22, OMIM:615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PDE3A Stephanie Allen reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, OMIM:112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PCDH12 Natalie Chandler reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 30178464, 27164683; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PAX1 Natalie Chandler reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 29681087, 32111619; Phenotypes: Otofaciocervical syndrome 2, OMIM:615560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PARP6 Lyn Chitty reviewed gene: PARP6: Rating: AMBER; Mode of pathogenicity: ; Publications: 34067418; Phenotypes: Microcephaly, Intellectual disability, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PAM16 Natalie Chandler reviewed gene: PAM16: Rating: AMBER; Mode of pathogenicity: ; Publications: 27354339, 24786642; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PACS2 Natalie Canham reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66, OMIM:618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PACS1 Natalie Bibb reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30712880, 32672908, 23159249, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, OMIM:615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 OTUD6B Anna de Burca reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 31147255, 32924626, 28343629; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 OTUD5 Esther Kinning reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33523931, 33131077; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ORAI1 Denise Williams reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31448844; Phenotypes: Myopathy, tubular aggregate, 2, OMIM:615883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 NUP88 Achchuthan Shanmugasundram reviewed gene: NUP88: Rating: AMBER; Mode of pathogenicity: ; Publications: 30543681; Phenotypes: Fetal akinesia deformation sequence 4, OMIM:618393, Fetal akinesia deformation sequence 4, MONDO:0100104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NUP188 Stephanie Allen reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 28726809, 32021605, 32275884; Phenotypes: microcephaly, ID, Sandestig-Stefanova syndrome, OMIM:618804, structural brain abnormalities, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NSRP1 Natalie Chandler reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: Intellectual disability, Neurodevelopmental disorder, MONDO:0700092, NSRP1-related, Cerebral palsy, microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NSD2 Lyn Chitty reviewed gene: NSD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31171569, 30345613; Phenotypes: Rauch-Steindl syndrome, OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPRL3 Natalie Chandler reviewed gene: NPRL3: Rating: RED; Mode of pathogenicity: ; Publications: 27173016, 33461085, 35136953, 26285051; Phenotypes: Epilepsy, familial focal, with variable foci 3, OMIM:617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPRL2 Natalie Canham reviewed gene: NPRL2: Rating: RED; Mode of pathogenicity: ; Publications: 29281825, 31625153, 22268191, 27173016, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 2, OMIM:617116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPL Denise Williams reviewed gene: NPL: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Sialic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NOVA2 Natalie Bibb reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NONO Anna de Burca reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550220, 27329731, 32397791, 26571461; Phenotypes: Ebstein s anomaly, Pulmonary stenosis, Left ventricular non-compaction cardiomyopathy (LVNC), Mental retardation, X-linked, syndromic 34, MIM# 300967, Ventricular septal defect (VSD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 NLRP3 Esther Kinning reviewed gene: NLRP3: Rating: RED; Mode of pathogenicity: ; Publications: 12928894, 12483741, 12032915; Phenotypes: CINCA syndrome, OMIM:607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NKX2-6 Denise Williams reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 32198970, 15649947, 24421281, 25319568, 25380965; Phenotypes: Persistent truncus arteriosus, OMIM:217095, Conotruncal heart malformations, OMIM:217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NID1 Achchuthan Shanmugasundram reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30773799, 12480912, 25558065, 23674478; Phenotypes: Hydrocephalus with or without seizures, Dandy-Walker malformation and occipital cephalocele; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NFIB Stephanie Allen reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402, 32902921, 33130023; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NFIA Natalie Chandler reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 32926563, 35018717, 36553517, 33973697; Phenotypes: Brain malformations with or without urinary tract defects, OMIM:613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NEXN Lyn Chitty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33949776, 33947203, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Cardiomyopathy, dilated 1CC, OMIM:613122, Hydrops fetalis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 NCAPD2 Natalie Chandler reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27737959, 28097321, 31056748; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM:617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NAA15 Natalie Canham reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: 31127942, 33557580; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MYSM1 Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Bone marrow failure syndrome 4, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MYOD1 Natalie Bibb reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30403323, 26733463, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MYBPC3 Esther Kinning reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19858127, 16679492, 17937428; Phenotypes: Cardiomyopathy, hypertrophic, 4, OMIM:115197, Neonatal hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MVK Denise Williams reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 27012807, 16722536; Phenotypes: Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MTX2 Achchuthan Shanmugasundram reviewed gene: MTX2: Rating: RED; Mode of pathogenicity: ; Publications: 32917887; Phenotypes: Mandibuloacral dysplasia progeroid syndrome, OMIM:619127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MT-TL1 Stephanie Allen reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL
Fetal anomalies v4.35 MT-TE Natalie Chandler reviewed gene: MT-TE: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 17161635; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL
Fetal anomalies v4.35 MPZ Stephanie Allen reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MPDZ Natalie Chandler reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499638, 30518636, 23240096, 28556411; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MNS1 Lyn Chitty reviewed gene: MNS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30148830, 31534215; Phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MITF Natalie Chandler reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: 32541011, 27889061; Phenotypes: COMMAD syndrome, OMIM:617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MINPP1 Natalie Canham reviewed gene: MINPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33168985, 33257696; Phenotypes: Pontocerebellar hypoplasia, type 16, OMIM:619527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MGAT2 Lyn Chitty reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: MGAT2-CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED27 Natalie Bibb reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED25 Anna de Burca reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: ; Publications: 32324310, 25792360, 32816121; Phenotypes: Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643, hypospadias, thin corpus callosum, cerebral ventricular dilatation, multiple congenital anomalies, congenital heart defects, Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED17 Esther Kinning reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33756211, 30345598; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MCIDAS Denise Williams reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25048963, 32802948, 30237576; Phenotypes: Hydrocephalus, Ciliary dyskinesia, primary, 42, OMIM:618695, Choroid plexus hyperplasia, Arachnoid cyst; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MBTPS1 Achchuthan Shanmugasundram reviewed gene: MBTPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32857899, 32420688, 30046013; Phenotypes: Skeletal dysplasia, no OMIM #; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAST1 Stephanie Allen reviewed gene: MAST1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32818970, 32198973, 31721002, 30449657; Phenotypes: cerebellar hypoplasia, corpus callosum anomalies, cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAPKAPK5 Natalie Chandler reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAPK8IP3 Lyn Chitty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30945334, 30612693; Phenotypes: cerebral atrophy, Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, corpus callosum anomalies, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v4.35 MAPK1 Natalie Chandler reviewed gene: MAPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32721402; Phenotypes: Noonan syndrome 13, OMIM:619087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAP1B Natalie Canham reviewed gene: MAP1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 33772511, 30150678, 31317654, 30214071; Phenotypes: Polymicrogyria, Periventricular nodular heterotopia 9, OMIM:618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAN2C1 Natalie Bibb reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAMLD1 Anna de Burca reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 MAB21L1 Esther Kinning reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245; Phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 LTBP1 Denise Williams reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33991472; Phenotypes: Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 LAGE3 Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31069511, 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 KIF4A Stephanie Allen reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34346154, 30679815, 24812067; Phenotypes: Hydrocephalus, Intellectual developmental disorder, X-linked 100, OMIM:300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 KIF21B Natalie Chandler reviewed gene: KIF21B: Rating: AMBER; Mode of pathogenicity: ; Publications: 32415109; Phenotypes: Global developmental delay, Neurodevelopmental disorder, MONDO:0700092, Intellectual disability, Abnormality of brain morphology, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KIDINS220 Lyn Chitty reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 32909676, 33205811, 22048169, 28934391; Phenotypes: cerebral ventriculomegaly, spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007, Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KIAA0825 Natalie Chandler reviewed gene: KIAA0825: Rating: AMBER; Mode of pathogenicity: ; Publications: 30982135, 32147526, 33776623; Phenotypes: Polydactyly, postaxial, type A10, OMIM:618498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KIAA0556 Natalie Canham reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: ; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KDM1A Natalie Bibb reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27094131, 24838796, 26656649; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KCNQ1 Anna de Burca reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: 27539165; Phenotypes: Long QT syndrome 1, OMIM:192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v4.35 KCNJ8 Esther Kinning reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24176758, 25275207, 24700710; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KCNH1 Denise Williams reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811134; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KAT5 Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32822602; Phenotypes: Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 JAM3 Stephanie Allen reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ITPR1 Samantha Doyle reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Spinocerebellar ataxia 29, congenital nonprogressive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 IRX5 Natalie Chandler reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581230, 34899143, 29168297; Phenotypes: Hamamy syndrome, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IQCE Lyn Chitty reviewed gene: IQCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 28488682, 31549751; Phenotypes: Polydactyly, postaxial, type A7 OMIM:617642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 INTS1 Natalie Chandler reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 31428919, 30622326; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IKZF1 Natalie Canham reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Immunodeficiency, common variable, 13, OMIM:616873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 IFT74 Natalie Canham reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144365, 27486776, 33531668; Phenotypes: Bardet-Biedl syndrome 22, OMIM:617119, Joubert syndrome 40, OMIM:619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IFT27 Natalie Bibb reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 25443296, 24488770, 26763875, 30761183; Phenotypes: Bardet-Biedl syndrome 19, OMIM:615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HYAL2 Anna de Burca reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23172227, 28081210, 26515055, 34906488; Phenotypes: congenital cardiac malformations, Cleft lip and palate, cor triatriatum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HSPA9 Esther Kinning reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26598328, 26491070, 32869452; Phenotypes: Anemia, sideroblastic, 4, OMIM:182170, Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HS2ST1 Denise Williams reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: arthrogryposis, Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HOXA2 Achchuthan Shanmugasundram reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: ; Publications: 32649979, 27503514, 28109504, 18394579, 23775976, 31567444; Phenotypes: Microtia with or without hearing impairment (AD), OMIM:612290; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 HNRNPH2 Stephanie Allen reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31236915, 30887513, 34907471, 31670473, 33728377; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 HMX1 Natalie Chandler reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574057, 18423520; Phenotypes: Oculoauricular syndrome, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HMGB1 Lyn Chitty reviewed gene: HMGB1: Rating: RED; Mode of pathogenicity: ; Publications: 34164801; Phenotypes: Neurodevelopmental disorder MONDO:0700092, HMGB1-related, intellectual disability, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 HK1 Natalie Bibb reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hexokinase deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 HIST1H4C Natalie Chandler reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: ; Publications: 28920961, 35202563; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 HHAT Natalie Canham reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 33749989, 30912300, 24784881; Phenotypes: Nivelon-Nivelon-Mabille syndrome, OMIM:600092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HERC1 Natalie Bibb reviewed gene: HERC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28323226, 26138117, 27108999, 26153217; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 H3F3A Anna de Burca reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33268356; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GTPBP2 Esther Kinning reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29449720, 30790272, 26675814; Phenotypes: Jaberi-Elahi syndrome, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GRM7 Denise Williams reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32286009, 32248644; Phenotypes: Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GPX4 Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GLMN Anna de Burca reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 23801931; Phenotypes: Plaque-Type Glomuvenous Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GHR Stephanie Allen reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9360502; Phenotypes: Growth hormone insensitivity, partial, OMIM:604271, Laron dwarfism, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GFRA1 Natalie Chandler reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36292572, 34737117, 33020172; Phenotypes: Renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GDF11 Lyn Chitty reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GATA5 Esther Kinning reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: congenital heart defects and genital anomalies, Congenital heart defects, multiple types, 5, Hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GATA1 Natalie Chandler reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10700180, 30914438, 29949202; Phenotypes: Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 GABRB2 Natalie Canham reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33325057, 27789573, 29100083; Phenotypes: Developmental and epileptic encephalopathy 92, OMIM:617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 G6PD Denise Williams reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Glucose-6-phosphate dehydrogenase deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 FRMPD4 Natalie Bibb reviewed gene: FRMPD4: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 29267967; Phenotypes: Intellectual Disability, X-linked 104, OMIM:300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 FRA10AC1 Anna de Burca reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34694367; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 FOXJ1 Esther Kinning reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Ciliary dyskinesia, primary, 43, OMIM:618699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FGF9 Denise Williams reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 33174625, 19589401, 28730625, 33140402, 19219044; Phenotypes: Multiple synostoses syndrome 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FBXW11 Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FBRSL1 Stephanie Allen reviewed gene: FBRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32424618, 34805182; Phenotypes: congenital heart defect, Congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FAT1 Natalie Chandler reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34013115, 33418956, 34202629, 26905694, 32902815, 30862798; Phenotypes: hand and foot anomalies, nephropathy, ocular anomalies, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 FAM149B1 Lyn Chitty reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30905400; Phenotypes: Joubert syndrome 36, OMIM:618763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC9 Natalie Chandler reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30690203, 33040083, 29727687; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC8 Natalie Canham reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24989451, 34210538; Phenotypes: Pontocerebellar hypoplasia, type 1C, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC5 Natalie Bibb reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32504085, 29302074; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOC7 Anna de Burca reviewed gene: EXOC7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32103185; Phenotypes: Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ERGIC1 Esther Kinning reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230720, 28317099, 34037256; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ERBB3 Denise Williams reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701904, 31752936, 33720042; Phenotypes: Lethal congenital contractural syndrome 2, OMIM:607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EN1 Achchuthan Shanmugasundram reviewed gene: EN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33568816; Phenotypes: ENDOVE syndrome, limb-brain type - OMIM#619218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EMC1 Stephanie Allen reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EIF3F Natalie Chandler reviewed gene: EIF3F: Rating: AMBER; Mode of pathogenicity: ; Publications: 33736665; Phenotypes: Intellectual developmental disorder, autosomal recessive 67, OMIM:618295; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EFEMP2 Lyn Chitty reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19664000, 23532871, 31548410, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EEF2 Natalie Chandler reviewed gene: EEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33355653; Phenotypes: hydrocephalus, Neurodevelopmental disorder, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 EDN3 Natalie Canham reviewed gene: EDN3: Rating: AMBER; Mode of pathogenicity: ; Publications: 9359047, 27370713, 11303518, 10231870, 8630502, 30171849; Phenotypes: Central hypoventilation syndrome, congenital, OMIM:209880, Waardenburg syndrome, type 4B, OMIM:613265, {Hirschsprung disease, susceptibility to, 4}, OMIM:613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 DYNC1I2 Natalie Bibb reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079899; Phenotypes: Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DYNC1I1 Anna de Burca reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32219838, 25231166, 22914741; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DPH1 Esther Kinning reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32732226, 30877278, 29362492, 25558065; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DPF2 Denise Williams reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7, OMIM:618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DOCK7 Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: 30807358, 24814191, 30771731; Phenotypes: Developmental and epileptic encephalopathy 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DNAJC19 Stephanie Allen reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: 17244376, 22797137, 16055927; Phenotypes: 3-methylglutaconic aciduria, type V, OMIM:610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DLL1 Natalie Chandler reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DICER1 Lyn Chitty reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: 35114704, 29343557, 33208384, 31232238, 27960159, 24676357, 26227654; Phenotypes: GLOW syndrome, somatic mosaic, OMIM:618272, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800, Pleuropulmonary blastoma, OMIM:601200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DEPDC5 Natalie Chandler reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36067010, 32848577; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364 biallelic only; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DEAF1 Natalie Canham reviewed gene: DEAF1: Rating: RED; Mode of pathogenicity: ; Publications: 28940898, 30923367, 26048982, 24726472, 26834045; Phenotypes: Vulto-van Silfout-de Vries syndrome, OMIM:615828, Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DDX6 Natalie Bibb reviewed gene: DDX6: Rating: RED; Mode of pathogenicity: ; Publications: 31422817; Phenotypes: Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DCC Anna de Burca reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250454, 28250456, 20431009, 21242494, 31697046; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 D2HGDH Esther Kinning reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CYBB Achchuthan Shanmugasundram reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16795136, 33082562; Phenotypes: X-linked Chronic granulomatous disease; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 CWF19L1 Denise Williams reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27016154; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CTNNA2 Achchuthan Shanmugasundram reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30013181; Phenotypes: Cortical dysplasia, complex, with other brain malformations 9, MIM#618174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CTDP1 Stephanie Allen reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20301787, 14517542, 24690360, 29174527, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CPAMD8 Natalie Chandler reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, OMIM: 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COLGALT1 Lyn Chitty reviewed gene: COLGALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31759980, 30412317, 33709034; Phenotypes: Brain small vessel disease 3, OMIM:618360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL9A3 Natalie Chandler reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: 15551337, 31090205, 25381065, 24273071, 33570243, 30450842; Phenotypes: Stickler syndrome, type VI, OMIM:620022, Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL27A1 Natalie Canham reviewed gene: COL27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24986830, 28276056, 28322503; Phenotypes: Steel syndrome, OMIM:615155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL25A1 Natalie Bibb reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: ; Publications: 26437029, 35077597; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COA7 Natalie Chandler reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683825, 29718187; Phenotypes: the cerebellum and brainstem were spared but the spinal cord was thin with no obvious focal lesions, Brain and spinal cord MRI showed mild extension of signal abnormalities and extensive cavitations in the cerebral white matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CLTC Anna de Burca reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 33743358, 26822784, 31776469, 34230591, 29100083; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CLMP Esther Kinning reviewed gene: CLMP: Rating: RED; Mode of pathogenicity: ; Publications: 22155368; Phenotypes: Congenital short bowel syndrome, OMIM:615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CLCNKB Denise Williams reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CITED2 Achchuthan Shanmugasundram reviewed gene: CITED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16287139, 29536580, 33706167, 31515672, 11694877, 33439552; Phenotypes: Atrial septal defect 8, OMIM:614433, Ventricular septal defect 2, OMIM:614431, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CFAP52 Stephanie Allen reviewed gene: CFAP52: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725, 25469542; Phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CFAP45 Natalie Chandler reviewed gene: CFAP45: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725; Phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CEP85L Lyn Chitty reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32097630; Phenotypes: Lissencephaly 10, posterior predominant, OMIM:618873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CELSR1 Natalie Chandler reviewed gene: CELSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26855770, 31215153, 31403174; Phenotypes: Lymphatic malformation 9, OMIM:619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CCDC22 Natalie Canham reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: ; Publications: 24916641, 21826058, 34020006, 31971710, 33059814; Phenotypes: Ritscher-Schinzel syndrome 2, OMIM:300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 CAPN15 Natalie Bibb reviewed gene: CAPN15: Rating: AMBER; Mode of pathogenicity: ; Publications: 32885237; Phenotypes: microphthalmia HP:0000568, coloboma HP:0000589, Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CALCRL Stephanie Allen reviewed gene: CALCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 30115739, 16537897; Phenotypes: Lymphatic Malformation 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CACNA1D Anna de Burca reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: 28472301, 25620733, 31921405; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CACNA1A Natalie Chandler reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, OMIM:617106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 C2orf69 Esther Kinning reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: 33945503, 34038740; Phenotypes: Combined oxidative phosphorylation deficiency 53, OMIM:619423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 C12orf57 Denise Williams reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 31853307, 29383837; Phenotypes: Temtamy syndrome, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BRF1 Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27748960, 25561519; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BRD4 Stephanie Allen reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34035299, 30302754, 29379197, 11997514; Phenotypes: Cornelia de Lange syndrome, MONDO:0016033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 BRCA1 Natalie Chandler reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865, 29133208, 34680915; Phenotypes: Fanconi anaemia, complementation group S, OMIM:617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BCAS3 Lyn Chitty reviewed gene: BCAS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: Hengel-Maroofian-Schols syndrome, OMIM:619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 B9D1 Natalie Chandler reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34338422, 25920555, 32622957, 21763481, 21493627, 24886560; Phenotypes: Joubert syndrome 27, MONDO:0014927, Joubert syndrome 27, OMIM:617120, Meckel syndrome 9, OMIM:614209, Meckel syndrome 9, MONDO:0013630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AUTS2 Natalie Canham reviewed gene: AUTS2: Rating: RED; Mode of pathogenicity: ; Publications: 23332918, 25205402, 31474318; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, OMIM:615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP6V1B2 Natalie Bibb reviewed gene: ATP6V1B2: Rating: RED; Mode of pathogenicity: ; Publications: 28396750, 24913193, 25915598; Phenotypes: Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480, Zimmermann-Laband syndrome 2, OMIM:616455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP1A3 Anna de Burca reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: 33880529, 33762331; Phenotypes: Polymicrogyria, Developmental and epileptic encephalopathy 99, OMIM:619606; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP11C Samantha Doyle reviewed gene: ATP11C: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: X-linked hemolytic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ATN1 Esther Kinning reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827498, 34212383; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATAD1 Denise Williams reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29390050, 29659736, 28180185; Phenotypes: Hyperekplexia 4, OMIM:618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ASXL2 Achchuthan Shanmugasundram reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ARL3 Stephanie Allen reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269812, 16565502; Phenotypes: Joubert syndrome 35, OMIM:618161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ARID2 Natalie Chandler reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28884947, 26238514, 35813374, 30838730, 28124119, 29698805; Phenotypes: Coffin-Siris syndrome 6, OMIM:617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ARF1 Lyn Chitty reviewed gene: ARF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28868155, 34353862; Phenotypes: Periventricular nodular heterotopia 8, OMIM:618185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 APC2 Natalie Chandler reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585108; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4S1 Natalie Canham reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283821, 25552650, 31915823, 27444738, 32216065, 21620353, 32979048; Phenotypes: Spastic paraplegia 52, autosomal recessive, OMIM:614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4M1 Natalie Bibb reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29096665, 21937992, 19559397, 28464862, 31915823, 25496299, 32979048; Phenotypes: Spastic paraplegia 50, autosomal recessive, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4B1 Anna de Burca reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24781758, 24700674, 32166732, 31525725, 32171285, 22290197, 21620353, 32979048; Phenotypes: Hereditary spastic paraplegia 47, MONDO:0013551, Spastic paraplegia 47, autosomal recessive, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ANKRD17 Esther Kinning reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33909992; Phenotypes: multiple congenital malformations, Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ANKLE2 Denise Williams reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31735666, 25259927, 30214071; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ANGPT2 Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32908006, 34876502; Phenotypes: Hydrops fetalis, MONDO:0015193, Lymphatic malformation-10, MIM#619369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 AMBRA1 Stephanie Allen reviewed gene: AMBRA1: Rating: RED; Mode of pathogenicity: ; Publications: 32333458, 17589504; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ALPK3 Natalie Chandler reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26846950, 28630369; Phenotypes: Cardiomyopathy, familial hypertrophic 27, OMIM:618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALG14 Lyn Chitty reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 34971077, 23404334, 28733338, 30221345; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227, Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALDH1A2 Natalie Chandler reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33565183, 36263470; Phenotypes: Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALB Natalie Canham reviewed gene: ALB: Rating: RED; Mode of pathogenicity: ; Publications: 31057599, 15300429, 23730173; Phenotypes: Analbuminemia, OMIM:616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AIMP1 Natalie Bibb reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: 32531460, 33402283, 21092922, 24958424, 30477741, 30486714, 26173967; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AGT Anna de Burca reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: 33163725, 34234805, 16116425; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AFF3 Esther Kinning reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, OMIM:619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ADCY6 Denise Williams reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: ; Publications: 33820833, 26257172, 24319099, 31846058; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287, MONDO:0014570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ADAMTS19 Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: AMBER; Mode of pathogenicity: ; Publications: 31844321, 32323311; Phenotypes: Heart valve disorder, MONDO:0002869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ACVRL1 Stephanie Allen reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988128, 26126400, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ACVR1 Natalie Chandler reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16642017, 29089047; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ACSL4 Lyn Chitty reviewed gene: ACSL4: Rating: RED; Mode of pathogenicity: ; Publications: 12525535; Phenotypes: Mental retardation, X-linked 63 , OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ABHD16A Natalie Chandler reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: ; Publications: 34866177, 34489854, 34587489; Phenotypes: Spastic paraplegia 86, autosomal recessive, OMIM:619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AARS Natalie Canham reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 25817015, 28493438; Phenotypes: Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.34 ZNHIT3 Achchuthan Shanmugasundram gene: ZNHIT3 was added
gene: ZNHIT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, OMIM:260565
Fetal anomalies v4.34 ZNF699 Achchuthan Shanmugasundram gene: ZNF699 was added
gene: ZNF699 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, OMIM:619488
Fetal anomalies v4.34 ZNF526 Achchuthan Shanmugasundram gene: ZNF526 was added
gene: ZNF526 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 33397746; 21937992; 25558065
Phenotypes for gene: ZNF526 were set to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
Fetal anomalies v4.34 ZNF462 Achchuthan Shanmugasundram Source NHS GMS was added to ZNF462.
Mode of inheritance for gene ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Weiss-Kruszka syndrome, OMIM:618619 for gene: ZNF462
Publications for gene: ZNF462 were updated from to 28513610; 31361404
Fetal anomalies v4.34 ZNF335 Achchuthan Shanmugasundram gene: ZNF335 was added
gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 34982360; 29652087; 27540107
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, OMIM:615095
Fetal anomalies v4.34 ZMIZ1 Achchuthan Shanmugasundram gene: ZMIZ1 was added
gene: ZMIZ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322; 31879022
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659
Fetal anomalies v4.34 ZBTB24 Achchuthan Shanmugasundram gene: ZBTB24 was added
gene: ZBTB24 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 32061411; 29023266; 32865561; 22786748; 23739126; 28128455
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069
Fetal anomalies v4.34 YRDC Achchuthan Shanmugasundram gene: YRDC was added
gene: YRDC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YRDC were set to 31481669; 34545459
Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM:619609
Fetal anomalies v4.34 YIPF5 Achchuthan Shanmugasundram gene: YIPF5 was added
gene: YIPF5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Fetal anomalies v4.34 YIF1B Achchuthan Shanmugasundram gene: YIF1B was added
gene: YIF1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 26077767; 32006098
Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, OMIM:619125
Fetal anomalies v4.34 YAP1 Achchuthan Shanmugasundram Source NHS GMS was added to YAP1.
Mode of inheritance for gene YAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433 for gene: YAP1
Publications for gene: YAP1 were updated from to 24462371; 28801591; 27267789
Fetal anomalies v4.34 WDR4 Achchuthan Shanmugasundram gene: WDR4 was added
gene: WDR4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to 28617965; 26416026
Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346
Fetal anomalies v4.34 WDR37 Achchuthan Shanmugasundram gene: WDR37 was added
gene: WDR37 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to 31327508; 31327510
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome, OMIM:618652
Fetal anomalies v4.34 VPS4A Achchuthan Shanmugasundram gene: VPS4A was added
gene: VPS4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome, OMIM:619273
Fetal anomalies v4.34 UBR7 Achchuthan Shanmugasundram gene: UBR7 was added
gene: UBR7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome, OMIM:619189
Fetal anomalies v4.34 UBA2 Achchuthan Shanmugasundram gene: UBA2 was added
gene: UBA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to ACCES syndrome, OMIM:619959
Fetal anomalies v4.34 TUBGCP2 Achchuthan Shanmugasundram gene: TUBGCP2 was added
gene: TUBGCP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Fetal anomalies v4.34 TTI2 Achchuthan Shanmugasundram Source NHS GMS was added to TTI2.
Source Expert Review Red was added to TTI2.
Added phenotypes Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly for gene: TTI2
Publications for gene: TTI2 were updated from to 32061250; 31737043; 23956177
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 TSHR Achchuthan Shanmugasundram Source NHS GMS was added to TSHR.
Mode of inheritance for gene TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 for gene: TSHR
Publications for gene: TSHR were updated from to 18655531; 15163335; 23295291; 9360555; 7800007
Fetal anomalies v4.34 TRRAP Achchuthan Shanmugasundram gene: TRRAP was added
gene: TRRAP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454
Fetal anomalies v4.34 TRNT1 Achchuthan Shanmugasundram gene: TRNT1 was added
gene: TRNT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 29055896; 33082562
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084
Fetal anomalies v4.34 TRIO Achchuthan Shanmugasundram Source NHS GMS was added to TRIO.
Mode of inheritance for gene TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 for gene: TRIO
Publications for gene: TRIO were updated from to 32109419; 26721934
Fetal anomalies v4.34 TRIM71 Achchuthan Shanmugasundram gene: TRIM71 was added
gene: TRIM71 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM71 were set to 32168371; 29983323; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, OMIM:618667
Fetal anomalies v4.34 TPO Achchuthan Shanmugasundram gene: TPO was added
gene: TPO was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 30662777; 34220711
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A, OMIM:274500
Fetal anomalies v4.34 TP73 Achchuthan Shanmugasundram gene: TP73 was added
gene: TP73 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 34077761; 31130284
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466
Fetal anomalies v4.34 TOR1AIP1 Achchuthan Shanmugasundram gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 27342937; 24856141; 30723199; 32055997; 33215087; 31299614
Phenotypes for gene: TOR1AIP1 were set to congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
Fetal anomalies v4.34 TOP2B Achchuthan Shanmugasundram gene: TOP2B was added
gene: TOP2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296
Fetal anomalies v4.34 TNFRSF11A Achchuthan Shanmugasundram gene: TNFRSF11A was added
gene: TNFRSF11A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, OMIM:612301
Fetal anomalies v4.34 TMEM218 Achchuthan Shanmugasundram gene: TMEM218 was added
gene: TMEM218 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 25161209; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562
Fetal anomalies v4.34 TLK2 Achchuthan Shanmugasundram gene: TLK2 was added
gene: TLK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TLK2 were set to 34821460; 31558842; 29861108
Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57, OMIM:618050
Fetal anomalies v4.34 TG Achchuthan Shanmugasundram gene: TG was added
gene: TG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 28620499; 19169491; 18631008; 33832185; 12915634
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3, OMIM:274700
Fetal anomalies v4.34 TBX22 Achchuthan Shanmugasundram Source NHS GMS was added to TBX22.
Mode of inheritance for gene TBX22 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 Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 for gene: TBX22
Publications for gene: TBX22 were updated from 22784330 to 22784330; 14729838; 17868388; 11559848; 12374769
Fetal anomalies v4.34 TBC1D1 Achchuthan Shanmugasundram gene: TBC1D1 was added
gene: TBC1D1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
Fetal anomalies v4.34 TAOK1 Achchuthan Shanmugasundram gene: TAOK1 was added
gene: TAOK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK1 were set to 31230721; 35091509; 33565190
Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575
Fetal anomalies v4.34 SYT2 Achchuthan Shanmugasundram gene: SYT2 was added
gene: SYT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to 30533528; 25192047; 32250532; 32776697
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461; Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Fetal anomalies v4.34 STT3B Achchuthan Shanmugasundram gene: STT3B was added
gene: STT3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3B were set to 33082562
Phenotypes for gene: STT3B were set to Congenital disorder of glycosylation, type Ix, OMIM:615597
Fetal anomalies v4.34 STT3A Achchuthan Shanmugasundram gene: STT3A was added
gene: STT3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 28424003; 30701557; 34653363; 23842455
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
Fetal anomalies v4.34 STK4 Achchuthan Shanmugasundram gene: STK4 was added
gene: STK4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868
Fetal anomalies v4.34 STIM1 Achchuthan Shanmugasundram gene: STIM1 was added
gene: STIM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 20876309; 31448844
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070
Fetal anomalies v4.34 STAT3 Achchuthan Shanmugasundram gene: STAT3 was added
gene: STAT3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 31771449; 34366294; 30617622
Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; Hyper-IgE recurrent infection syndrome, OMIM:147060
Fetal anomalies v4.34 SPTB Achchuthan Shanmugasundram gene: SPTB was added
gene: SPTB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTB were set to 33761640; 33082562; 35819869
Phenotypes for gene: SPTB were set to Elliptocytosis-3, OMIM:617948; Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948; Spherocytosis, type 2, OMIM:616649
Fetal anomalies v4.34 SPTA1 Achchuthan Shanmugasundram Source NHS GMS was added to SPTA1.
Source Expert Review Red was added to SPTA1.
Mode of inheritance for gene SPTA1 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
Added phenotypes Elliptocytosis-2, OMIM:130600; Spherocytosis, type 3, OMIM:270970 for gene: SPTA1
Publications for gene: SPTA1 were updated from 31333484; 34132406 to 31333484; 33082562; 34132406
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 SPRED2 Achchuthan Shanmugasundram gene: SPRED2 was added
gene: SPRED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534; 36394128
Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, OMIM:619745
Fetal anomalies v4.34 SPINT2 Achchuthan Shanmugasundram gene: SPINT2 was added
gene: SPINT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 19185281; 24142340; 30445423; 20009592; 33374714; 33029133; 33547739
Phenotypes for gene: SPINT2 were set to congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Fetal anomalies v4.34 SPEN Achchuthan Shanmugasundram gene: SPEN was added
gene: SPEN was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, OMIM:619312
Fetal anomalies v4.34 SOX11 Achchuthan Shanmugasundram Source NHS GMS was added to SOX11.
Mode of inheritance for gene SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 for gene: SOX11
Publications for gene: SOX11 were updated from to 33785884; 24886874; 31530938; 33086258; 33430815
Fetal anomalies v4.34 SMARCD1 Achchuthan Shanmugasundram gene: SMARCD1 was added
gene: SMARCD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Coffin-Siris syndrome 11, OMIM:618779
Fetal anomalies v4.34 SMAD6 Achchuthan Shanmugasundram gene: SMAD6 was added
gene: SMAD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 22275001; 31138930; 32499606; 27606499
Phenotypes for gene: SMAD6 were set to {Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300
Fetal anomalies v4.34 SMAD2 Achchuthan Shanmugasundram gene: SMAD2 was added
gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 30157302; 29967133; 23665959
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657
Fetal anomalies v4.34 SLC4A1 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC4A1.
Source NHS GMS was added to SLC4A1.
Added phenotypes Ovalocytosis, SA type, OMIM:166900 for gene: SLC4A1
Publications for gene: SLC4A1 were updated from to 33082562; 24652967
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SLC25A26 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC25A26.
Source NHS GMS was added to SLC25A26.
Added phenotypes Combined oxidative phosphorylation deficiency 28, OMIM:616794 for gene: SLC25A26
Publications for gene: SLC25A26 were updated from to 26522469; 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SLC22A5 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC22A5.
Source NHS GMS was added to SLC22A5.
Publications for gene: SLC22A5 were updated from 10545605; 11261427 to 33082562; 10545605; 11261427
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SKIV2L Achchuthan Shanmugasundram Source Expert Review Amber was added to SKIV2L.
Source NHS GMS was added to SKIV2L.
Added phenotypes Trichohepatoenteric syndrome 2, OMIM:614602 for gene: SKIV2L
Publications for gene: SKIV2L were updated from to 22444670; 27431780
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SIN3A Achchuthan Shanmugasundram Source NHS GMS was added to SIN3A.
Mode of inheritance for gene SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Witteveen-Kolk syndrome, OMIM:613406 for gene: SIN3A
Publications for gene: SIN3A were updated from to 27399968
Fetal anomalies v4.34 SHMT2 Achchuthan Shanmugasundram gene: SHMT2 was added
gene: SHMT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
Fetal anomalies v4.34 SF3B2 Achchuthan Shanmugasundram gene: SF3B2 was added
gene: SF3B2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B2 were set to 34344887; 37555391
Phenotypes for gene: SF3B2 were set to Craniofacial microsomia, OMIM:164210
Fetal anomalies v4.34 SERPINA11 Achchuthan Shanmugasundram Source NHS GMS was added to SERPINA11.
Source Expert Review Red was added to SERPINA11.
Added phenotypes SERPINA11-prenatal lethal disorder for gene: SERPINA11
Publications for gene: SERPINA11 were updated from 28749478; 31742715 to 33082562; 31742715; 28749478
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 SEMA3A Achchuthan Shanmugasundram gene: SEMA3A was added
gene: SEMA3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 20301509; 22927827; 24124006; 33369061; 21059704; 28075028
Phenotypes for gene: SEMA3A were set to skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease
Fetal anomalies v4.34 SCNN1G Achchuthan Shanmugasundram gene: SCNN1G was added
gene: SCNN1G was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 31522814; 11231969; 8640238; 7633160
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126
Fetal anomalies v4.34 SCNN1B Achchuthan Shanmugasundram gene: SCNN1B was added
gene: SCNN1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, OMIM:264350
Fetal anomalies v4.34 SCNN1A Achchuthan Shanmugasundram gene: SCNN1A was added
gene: SCNN1A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to 8589714; 31301676
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, OMIM:264350
Fetal anomalies v4.34 SCN5A Achchuthan Shanmugasundram gene: SCN5A was added
gene: SCN5A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 19419784; 22064211; 15184283
Phenotypes for gene: SCN5A were set to {Sudden infant death syndrome, susceptibility to}, OMIM:272120; Long QT syndrome 3, OMIM:603830
Fetal anomalies v4.34 SCN3A Achchuthan Shanmugasundram Source NHS GMS was added to SCN3A.
Mode of inheritance for gene SCN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development for gene: SCN3A
Publications for gene: SCN3A were updated from to 29740860; 32515017; 30146301
Fetal anomalies v4.34 SCAF4 Achchuthan Shanmugasundram gene: SCAF4 was added
gene: SCAF4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Fliedner-Zweier syndrome, OMIM:620511
Fetal anomalies v4.34 RPL15 Achchuthan Shanmugasundram gene: RPL15 was added
gene: RPL15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 20301769; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, OMIM:615550; multiple congenital malformations; hydrops
Fetal anomalies v4.34 RNU12 Achchuthan Shanmugasundram gene: RNU12 was added
gene: RNU12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations; CDAGS syndrome, OMIM:603116
Fetal anomalies v4.34 RNF125 Achchuthan Shanmugasundram gene: RNF125 was added
gene: RNF125 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF125 were set to 25196541
Phenotypes for gene: RNF125 were set to Tenorio syndrome, OMIM:616260
Fetal anomalies v4.34 RNF113A Achchuthan Shanmugasundram gene: RNF113A was added
gene: RNF113A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Fetal anomalies v4.34 RLIM Achchuthan Shanmugasundram Source NHS GMS was added to RLIM.
Mode of inheritance for gene RLIM 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 Tonne-Kalscheuer syndrome, OMIM:300978 for gene: RLIM
Publications for gene: RLIM were updated from to 29728705; 25735484; 25644381
Fetal anomalies v4.34 RHOA Achchuthan Shanmugasundram gene: RHOA was added
gene: RHOA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RHOA were set to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
Fetal anomalies v4.34 RHEB Achchuthan Shanmugasundram gene: RHEB was added
gene: RHEB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHEB were set to 29051493; 31337748
Phenotypes for gene: RHEB were set to Macrocephaly; Intellectual disability; Focal cortical dysplasia
Fetal anomalies v4.34 RBP4 Achchuthan Shanmugasundram gene: RBP4 was added
gene: RBP4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBP4 were set to 29178648; 25910211
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, OMIM:616428
Fetal anomalies v4.34 RAP1B Achchuthan Shanmugasundram gene: RAP1B was added
gene: RAP1B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to 26280580; 32627184
Phenotypes for gene: RAP1B were set to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654
Fetal anomalies v4.34 RAD51 Achchuthan Shanmugasundram Source NHS GMS was added to RAD51.
Mode of inheritance for gene RAD51 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fanconi anaemia, complementation group R, MIM# 617244 for gene: RAD51
Publications for gene: RAD51 were updated from to 30907510; 26253028; 26681308
Fetal anomalies v4.34 RAD50 Achchuthan Shanmugasundram gene: RAD50 was added
gene: RAD50 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 33378670; 32212377; 19409520
Phenotypes for gene: RAD50 were set to MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078
Fetal anomalies v4.34 RAB11B Achchuthan Shanmugasundram Source NHS GMS was added to RAB11B.
Mode of inheritance for gene RAB11B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 for gene: RAB11B
Publications for gene: RAB11B were updated from to 29106825
Fetal anomalies v4.34 PTPN23 Achchuthan Shanmugasundram gene: PTPN23 was added
gene: PTPN23 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065; 31395947; 27848944
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
Fetal anomalies v4.34 PRR12 Achchuthan Shanmugasundram gene: PRR12 was added
gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724; 33314030
Phenotypes for gene: PRR12 were set to Neuroocular syndrome, OMIM:619539; Complex microphthalmia
Fetal anomalies v4.34 PRF1 Achchuthan Shanmugasundram gene: PRF1 was added
gene: PRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anaemia, OMIM:609135; Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Fetal anomalies v4.34 PPP3CA Achchuthan Shanmugasundram Source NHS GMS was added to PPP3CA.
Mode of inheritance for gene PPP3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 for gene: PPP3CA
Publications for gene: PPP3CA were updated from to 28942967; 33082562; 29432562
Fetal anomalies v4.34 PPP2R3C Achchuthan Shanmugasundram gene: PPP2R3C was added
gene: PPP2R3C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818
Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419
Fetal anomalies v4.34 PPP2CA Achchuthan Shanmugasundram gene: PPP2CA was added
gene: PPP2CA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354
Fetal anomalies v4.34 PPP1R13L Achchuthan Shanmugasundram gene: PPP1R13L was added
gene: PPP1R13L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28864777
Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Fetal anomalies v4.34 PPP1R12A Achchuthan Shanmugasundram gene: PPP1R12A was added
gene: PPP1R12A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R12A were set to 31883643
Phenotypes for gene: PPP1R12A were set to holoprosencephaly; disorder of sex development; Intellectual disability
Fetal anomalies v4.34 PPIL1 Achchuthan Shanmugasundram gene: PPIL1 was added
gene: PPIL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, OMIM:619301
Fetal anomalies v4.34 POLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to POLD1.
Source NHS GMS was added to POLD1.
Mode of inheritance for gene POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 for gene: POLD1
Publications for gene: POLD1 were updated from to 23770608
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 PLEC Achchuthan Shanmugasundram gene: PLEC was added
gene: PLEC was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 28824526; 31509265; 22144912; 21263134; 21109228; 20624679
Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
Fetal anomalies v4.34 PKP2 Achchuthan Shanmugasundram gene: PKP2 was added
gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP2 were set to 33082562
Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction
Fetal anomalies v4.34 PIGH Achchuthan Shanmugasundram gene: PIGH was added
gene: PIGH was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29603516; 29573052; 33156547; 35445667
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010
Fetal anomalies v4.34 PIDD1 Achchuthan Shanmugasundram gene: PIDD1 was added
gene: PIDD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 33414379; 28397838; 34163010; 29302074
Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
Fetal anomalies v4.34 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v4.34 PHF21A Achchuthan Shanmugasundram Source NHS GMS was added to PHF21A.
Mode of inheritance for gene PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 for gene: PHF21A
Publications for gene: PHF21A were updated from to 31649809; 30487643; 22770980
Fetal anomalies v4.34 PHEX Achchuthan Shanmugasundram gene: PHEX was added
gene: PHEX was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PHEX 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: PHEX were set to 9106524; 16055933; 19219621; 29791829
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, OMIM:307800
Fetal anomalies v4.34 PDE6D Achchuthan Shanmugasundram gene: PDE6D was added
gene: PDE6D was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 30423442; 24166846
Phenotypes for gene: PDE6D were set to Joubert syndrome 22, OMIM:615665
Fetal anomalies v4.34 PDE3A Achchuthan Shanmugasundram gene: PDE3A was added
gene: PDE3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, OMIM:112410
Fetal anomalies v4.34 PCDH12 Achchuthan Shanmugasundram gene: PCDH12 was added
gene: PCDH12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 30178464; 27164683
Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280
Fetal anomalies v4.34 PAX1 Achchuthan Shanmugasundram gene: PAX1 was added
gene: PAX1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 23851939; 29681087; 32111619
Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, OMIM:615560
Fetal anomalies v4.34 PARP6 Achchuthan Shanmugasundram gene: PARP6 was added
gene: PARP6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to 34067418
Phenotypes for gene: PARP6 were set to Microcephaly; Intellectual disability; Epilepsy
Fetal anomalies v4.34 PAM16 Achchuthan Shanmugasundram gene: PAM16 was added
gene: PAM16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 27354339; 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320
Fetal anomalies v4.34 PACS2 Achchuthan Shanmugasundram gene: PACS2 was added
gene: PACS2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS2 were set to 29656858; 34894068; 34859793
Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66, OMIM:618067
Fetal anomalies v4.34 PACS1 Achchuthan Shanmugasundram Source NHS GMS was added to PACS1.
Mode of inheritance for gene PACS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Schuurs-Hoeijmakers syndrome, OMIM:615009 for gene: PACS1
Publications for gene: PACS1 were updated from 30712880 to 30712880; 32672908; 23159249; 26842493
Fetal anomalies v4.34 ORAI1 Achchuthan Shanmugasundram gene: ORAI1 was added
gene: ORAI1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 31448844
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883
Fetal anomalies v4.34 NUP188 Achchuthan Shanmugasundram gene: NUP188 was added
gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 28726809; 32021605; 32275884
Phenotypes for gene: NUP188 were set to microcephaly; ID; Sandestig-Stefanova syndrome, OMIM:618804; structural brain abnormalities; cataract
Fetal anomalies v4.34 NSRP1 Achchuthan Shanmugasundram gene: NSRP1 was added
gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
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 Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001
Fetal anomalies v4.34 NSD2 Achchuthan Shanmugasundram gene: NSD2 was added
gene: NSD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 31171569; 30345613
Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, OMIM:619695
Fetal anomalies v4.34 NPRL3 Achchuthan Shanmugasundram gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118
Fetal anomalies v4.34 NPRL2 Achchuthan Shanmugasundram gene: NPRL2 was added
gene: NPRL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116
Fetal anomalies v4.34 NPL Achchuthan Shanmugasundram gene: NPL was added
gene: NPL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPL were set to 33082562
Phenotypes for gene: NPL were set to Sialic aciduria
Fetal anomalies v4.34 NOVA2 Achchuthan Shanmugasundram Source NHS GMS was added to NOVA2.
Mode of inheritance for gene NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859 for gene: NOVA2
Publications for gene: NOVA2 were updated from to 32197073
Fetal anomalies v4.34 NONO Achchuthan Shanmugasundram Source NHS GMS was added to NONO.
Mode of inheritance for gene NONO 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 Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 for gene: NONO
Publications for gene: NONO were updated from 31680349; 32397791 to 27329731; 32397791; 26571461; 31680349; 27550220
Fetal anomalies v4.34 NLRP3 Achchuthan Shanmugasundram gene: NLRP3 was added
gene: NLRP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 12928894; 12483741; 12032915
Phenotypes for gene: NLRP3 were set to CINCA syndrome, OMIM:607115
Fetal anomalies v4.34 NKX2-6 Achchuthan Shanmugasundram gene: NKX2-6 was added
gene: NKX2-6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-6 were set to 32198970; 15649947; 24421281; 25319568; 25380965
Phenotypes for gene: NKX2-6 were set to Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095
Fetal anomalies v4.34 NID1 Achchuthan Shanmugasundram gene: NID1 was added
gene: NID1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NID1 were set to 30773799; 12480912; 25558065; 23674478
Phenotypes for gene: NID1 were set to Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele
Fetal anomalies v4.34 NFIB Achchuthan Shanmugasundram gene: NFIB was added
gene: NFIB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402; 32902921; 33130023
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
Fetal anomalies v4.34 NFIA Achchuthan Shanmugasundram gene: NFIA was added
gene: NFIA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 32926563; 35018717; 36553517; 33973697
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, OMIM:613735
Fetal anomalies v4.34 NEXN Achchuthan Shanmugasundram Source NHS GMS was added to NEXN.
Mode of inheritance for gene NEXN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were updated from 32058062; 33027564 to 33947203; 32058062; 35166435; 33027564; 33949776
Fetal anomalies v4.34 NCAPD2 Achchuthan Shanmugasundram gene: NCAPD2 was added
gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to 27737959; 28097321; 31056748
Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM:617983
Fetal anomalies v4.34 NAA15 Achchuthan Shanmugasundram Source NHS GMS was added to NAA15.
Mode of inheritance for gene NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 for gene: NAA15
Publications for gene: NAA15 were updated from to 31127942; 33557580
Fetal anomalies v4.34 MYSM1 Achchuthan Shanmugasundram gene: MYSM1 was added
gene: MYSM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 33082562
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, OMIM:618116
Fetal anomalies v4.34 MYBPC3 Achchuthan Shanmugasundram Source NHS GMS was added to MYBPC3.
Mode of inheritance for gene MYBPC3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, hypertrophic, 4, OMIM:115197 for gene: MYBPC3
Publications for gene: MYBPC3 were updated from 19858127; 28749478 to 19858127; 16679492; 28749478; 17937428
Fetal anomalies v4.34 MVK Achchuthan Shanmugasundram gene: MVK was added
gene: MVK was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807; 16722536
Phenotypes for gene: MVK were set to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Fetal anomalies v4.34 MTX2 Achchuthan Shanmugasundram gene: MTX2 was added
gene: MTX2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Fetal anomalies v4.34 MT-TL1 Achchuthan Shanmugasundram gene: MT-TL1 was added
gene: MT-TL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 33082562
Phenotypes for gene: MT-TL1 were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MT-TE Achchuthan Shanmugasundram gene: MT-TE was added
gene: MT-TE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 33082562; 17161635
Phenotypes for gene: MT-TE were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MPZ Achchuthan Shanmugasundram Source Expert Review Amber was added to MPZ.
Source NHS GMS was added to MPZ.
Mode of inheritance for gene MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypomyelinating neuropathy, congenital, 2, OMIM:618184 for gene: MPZ
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 MPDZ Achchuthan Shanmugasundram gene: MPDZ was added
gene: MPDZ was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 29499638; 30518636; 23240096; 28556411
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Fetal anomalies v4.34 MNS1 Achchuthan Shanmugasundram gene: MNS1 was added
gene: MNS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 30148830; 31534215
Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948
Fetal anomalies v4.34 MINPP1 Achchuthan Shanmugasundram gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33168985; 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, OMIM:619527
Fetal anomalies v4.34 MGAT2 Achchuthan Shanmugasundram Source Expert Review Amber was added to MGAT2.
Source NHS GMS was added to MGAT2.
Added phenotypes Congenital disorder of glycosylation, type Iia, OMIM:212066 for gene: MGAT2
Publications for gene: MGAT2 were updated from to 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 MED27 Achchuthan Shanmugasundram gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
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
Fetal anomalies v4.34 MED25 Achchuthan Shanmugasundram gene: MED25 was added
gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 32324310; 25792360; 32816121
Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.34 MCIDAS Achchuthan Shanmugasundram gene: MCIDAS was added
gene: MCIDAS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCIDAS were set to 25048963; 32802948; 30237576
Phenotypes for gene: MCIDAS were set to Hydrocephalus; Ciliary dyskinesia, primary, 42, OMIM:618695; Choroid plexus hyperplasia; Arachnoid cyst
Fetal anomalies v4.34 MBTPS1 Achchuthan Shanmugasundram gene: MBTPS1 was added
gene: MBTPS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, OMIM:618392
Fetal anomalies v4.34 MAST1 Achchuthan Shanmugasundram gene: MAST1 was added
gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657
Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827
Fetal anomalies v4.34 MAPKAPK5 Achchuthan Shanmugasundram gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 35575217; 33442026
Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869
Fetal anomalies v4.34 MAPK8IP3 Achchuthan Shanmugasundram gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30945334; 30612693
Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria
Fetal anomalies v4.34 MAPK1 Achchuthan Shanmugasundram gene: MAPK1 was added
gene: MAPK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13, OMIM:619087
Fetal anomalies v4.34 MAP1B Achchuthan Shanmugasundram gene: MAP1B was added
gene: MAP1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 33772511; 30150678; 31317654; 30214071
Phenotypes for gene: MAP1B were set to Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918
Fetal anomalies v4.34 MAN2C1 Achchuthan Shanmugasundram gene: MAN2C1 was added
gene: MAN2C1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to Congenital disorder of deglycosylation 2, MIM# 619775
Fetal anomalies v4.34 MAB21L1 Achchuthan Shanmugasundram gene: MAB21L1 was added
gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Fetal anomalies v4.34 LTBP1 Achchuthan Shanmugasundram gene: LTBP1 was added
gene: LTBP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE, OMIM:619451
Fetal anomalies v4.34 LAGE3 Achchuthan Shanmugasundram gene: LAGE3 was added
gene: LAGE3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 31069511; 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Fetal anomalies v4.34 KIF4A Achchuthan Shanmugasundram gene: KIF4A was added
gene: KIF4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KIF4A were set to 34346154; 30679815; 24812067
Phenotypes for gene: KIF4A were set to Hydrocephalus; Intellectual developmental disorder, X-linked 100, OMIM:300923
Fetal anomalies v4.34 KIF21B Achchuthan Shanmugasundram gene: KIF21B was added
gene: KIF21B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21B were set to 32415109
Phenotypes for gene: KIF21B were set to Global developmental delay; Neurodevelopmental disorder, MONDO:0700092; Intellectual disability; Abnormality of brain morphology; Microcephaly
Fetal anomalies v4.34 KIAA0825 Achchuthan Shanmugasundram gene: KIAA0825 was added
gene: KIAA0825 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0825 were set to 30982135; 32147526; 33776623
Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, OMIM:618498
Fetal anomalies v4.34 KIAA0556 Achchuthan Shanmugasundram gene: KIAA0556 was added
gene: KIAA0556 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 27245168; 26714646
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, OMIM:616784
Fetal anomalies v4.34 KDM1A Achchuthan Shanmugasundram Source NHS GMS was added to KDM1A.
Mode of inheritance for gene KDM1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 for gene: KDM1A
Publications for gene: KDM1A were updated from to 27094131; 24838796; 26656649
Fetal anomalies v4.34 KCNQ1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Long QT syndrome 1, OMIM:192500 for gene: KCNQ1
Publications for gene: KCNQ1 were updated from to 27539165
Fetal anomalies v4.34 KCNJ8 Achchuthan Shanmugasundram Source NHS GMS was added to KCNJ8.
Mode of inheritance for gene KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 25275207; 24700710; 24176758
Fetal anomalies v4.34 KCNH1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNH1.
Mode of inheritance for gene KCNH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Zimmermann-Laband syndrome 1, OMIM:135500 for gene: KCNH1
Publications for gene: KCNH1 were updated from to 33811134
Fetal anomalies v4.34 KAT5 Achchuthan Shanmugasundram gene: KAT5 was added
gene: KAT5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103
Fetal anomalies v4.34 IQCE Achchuthan Shanmugasundram gene: IQCE was added
gene: IQCE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 28488682; 31549751
Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 OMIM:617642
Fetal anomalies v4.34 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 31428919; 30622326
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857
Fetal anomalies v4.34 IKZF1 Achchuthan Shanmugasundram gene: IKZF1 was added
gene: IKZF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to 33082562
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, OMIM:616873
Fetal anomalies v4.34 IFT74 Achchuthan Shanmugasundram gene: IFT74 was added
gene: IFT74 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 32144365; 27486776; 33531668
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 22, OMIM:617119; Joubert syndrome 40, OMIM:619582
Fetal anomalies v4.34 IFT27 Achchuthan Shanmugasundram gene: IFT27 was added
gene: IFT27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 25443296; 24488770; 26763875; 30761183
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, OMIM:615996
Fetal anomalies v4.34 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 23172227; 28081210; 26515055; 34906488
Phenotypes for gene: HYAL2 were set to congenital cardiac malformations; Cleft lip and palate; cor triatriatum
Fetal anomalies v4.34 HSPA9 Achchuthan Shanmugasundram gene: HSPA9 was added
gene: HSPA9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 26491070; 32869452
Phenotypes for gene: HSPA9 were set to Anemia, sideroblastic, 4, OMIM:182170; Even-plus syndrome, OMIM:616854
Fetal anomalies v4.34 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies
Fetal anomalies v4.34 HOXA2 Achchuthan Shanmugasundram gene: HOXA2 was added
gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444
Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290
Fetal anomalies v4.34 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGB1 were set to 34164801
Phenotypes for gene: HMGB1 were set to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; intellectual disability; microcephaly
Fetal anomalies v4.34 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HK1 were set to 33082562
Phenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency, OMIM:235700; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Fetal anomalies v4.34 HIST1H4C Achchuthan Shanmugasundram Source NHS GMS was added to HIST1H4C.
Mode of inheritance for gene HIST1H4C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 for gene: HIST1H4C
Publications for gene: HIST1H4C were updated from to 28920961; 35202563
Fetal anomalies v4.34 HHAT Achchuthan Shanmugasundram gene: HHAT was added
gene: HHAT was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989; 30912300; 24784881
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Fetal anomalies v4.34 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 26138117; 27108999; 26153217
Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011
Fetal anomalies v4.34 H3F3A Achchuthan Shanmugasundram Source Expert Review Amber was added to H3F3A.
Source NHS GMS was added to H3F3A.
Mode of inheritance for gene H3F3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720 for gene: H3F3A
Publications for gene: H3F3A were updated from to 33268356
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GTPBP2 Achchuthan Shanmugasundram gene: GTPBP2 was added
gene: GTPBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 29449720; 30790272; 26675814
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, OMIM:617988
Fetal anomalies v4.34 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
Fetal anomalies v4.34 GLMN Achchuthan Shanmugasundram Source Expert Review Amber was added to GLMN.
Source NHS GMS was added to GLMN.
Mode of inheritance for gene GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glomulovenous malformations, OMIM:138000 for gene: GLMN
Publications for gene: GLMN were updated from to 33082562; 23801931
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GHR Achchuthan Shanmugasundram Source Expert Review Amber was added to GHR.
Source NHS GMS was added to GHR.
Added phenotypes Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 for gene: GHR
Publications for gene: GHR were updated from to 9360502
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GDF11 Achchuthan Shanmugasundram gene: GDF11 was added
gene: GDF11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122
Fetal anomalies v4.34 GATA5 Achchuthan Shanmugasundram gene: GATA5 was added
gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATA5 were set to 33082562
Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912
Fetal anomalies v4.34 GABRB2 Achchuthan Shanmugasundram Source NHS GMS was added to GABRB2.
Mode of inheritance for gene GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 92, OMIM:617829 for gene: GABRB2
Publications for gene: GABRB2 were updated from to 33325057; 27789573; 29100083
Fetal anomalies v4.34 G6PD Achchuthan Shanmugasundram gene: G6PD was added
gene: G6PD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: G6PD 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: G6PD were set to 33082562
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), OMIM:300908
Fetal anomalies v4.34 FRMPD4 Achchuthan Shanmugasundram Source NHS GMS was added to FRMPD4.
Source Expert Review Red was added to FRMPD4.
Added phenotypes Intellectual Disability, X-linked 104, OMIM:300983 for gene: FRMPD4
Publications for gene: FRMPD4 were updated from to 25644381; 29267967
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Fetal anomalies v4.34 FOXJ1 Achchuthan Shanmugasundram gene: FOXJ1 was added
gene: FOXJ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43, OMIM:618699
Fetal anomalies v4.34 FGF9 Achchuthan Shanmugasundram Source NHS GMS was added to FGF9.
Mode of inheritance for gene FGF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Multiple synostoses syndrome 3, OMIM:612961 for gene: FGF9
Publications for gene: FGF9 were updated from to 33174625; 19589401; 28730625; 33140402; 19219044
Fetal anomalies v4.34 FBXW11 Achchuthan Shanmugasundram gene: FBXW11 was added
gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW11 were set to 31402090
Phenotypes for gene: FBXW11 were set to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
Fetal anomalies v4.34 FBRSL1 Achchuthan Shanmugasundram gene: FBRSL1 was added
gene: FBRSL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618; 34805182
Phenotypes for gene: FBRSL1 were set to congenital heart defect; Congenital malformations
Fetal anomalies v4.34 FAT1 Achchuthan Shanmugasundram gene: FAT1 was added
gene: FAT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 34013115; 33418956; 34202629; 26905694; 32902815; 30862798
Phenotypes for gene: FAT1 were set to hand and foot anomalies; nephropathy; ocular anomalies; multiple congenital anomalies
Fetal anomalies v4.34 FAM149B1 Achchuthan Shanmugasundram gene: FAM149B1 was added
gene: FAM149B1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36, OMIM:618763
Fetal anomalies v4.34 EXOSC9 Achchuthan Shanmugasundram gene: EXOSC9 was added
gene: EXOSC9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 30690203; 33040083; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, OMIM:618065
Fetal anomalies v4.34 EXOSC8 Achchuthan Shanmugasundram gene: EXOSC8 was added
gene: EXOSC8 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 24989451; 34210538
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Fetal anomalies v4.34 EXOSC5 Achchuthan Shanmugasundram gene: EXOSC5 was added
gene: EXOSC5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576
Fetal anomalies v4.34 EXOC7 Achchuthan Shanmugasundram gene: EXOC7 was added
gene: EXOC7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC7 were set to 32103185
Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072
Fetal anomalies v4.34 ERGIC1 Achchuthan Shanmugasundram gene: ERGIC1 was added
gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Fetal anomalies v4.34 ERBB3 Achchuthan Shanmugasundram gene: ERBB3 was added
gene: ERBB3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17701904; 31752936; 33720042
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, OMIM:607598
Fetal anomalies v4.34 EMC1 Achchuthan Shanmugasundram Source NHS GMS was added to EMC1.
Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1
Publications for gene: EMC1 were updated from to 29271071; 26942288
Fetal anomalies v4.34 EIF3F Achchuthan Shanmugasundram gene: EIF3F was added
gene: EIF3F was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 33736665
Phenotypes for gene: EIF3F were set to Intellectual developmental disorder, autosomal recessive 67, OMIM:618295
Fetal anomalies v4.34 EFEMP2 Achchuthan Shanmugasundram gene: EFEMP2 was added
gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 19664000; 23532871; 31548410; 30140196
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Fetal anomalies v4.34 EEF2 Achchuthan Shanmugasundram gene: EEF2 was added
gene: EEF2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephalus; Neurodevelopmental disorder; macrocephaly
Fetal anomalies v4.34 EDN3 Achchuthan Shanmugasundram gene: EDN3 was added
gene: EDN3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to 9359047; 27370713; 11303518; 10231870; 8630502; 30171849
Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, OMIM:209880; Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Fetal anomalies v4.34 DYNC1I2 Achchuthan Shanmugasundram gene: DYNC1I2 was added
gene: DYNC1I2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Fetal anomalies v4.34 DYNC1I1 Achchuthan Shanmugasundram gene: DYNC1I1 was added
gene: DYNC1I1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1I1 were set to 32219838; 25231166; 22914741
Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)
Fetal anomalies v4.34 DPF2 Achchuthan Shanmugasundram Source NHS GMS was added to DPF2.
Mode of inheritance for gene DPF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coffin-Siris syndrome 7, OMIM:618027 for gene: DPF2
Publications for gene: DPF2 were updated from to 29429572; 31706665
Fetal anomalies v4.34 DLL1 Achchuthan Shanmugasundram gene: DLL1 was added
gene: DLL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709
Fetal anomalies v4.34 DICER1 Achchuthan Shanmugasundram gene: DICER1 was added
gene: DICER1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DICER1 were set to 35114704; 29343557; 33208384; 31232238; 27960159; 24676357; 26227654
Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic, OMIM:618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800; Pleuropulmonary blastoma, OMIM:601200
Fetal anomalies v4.34 DEAF1 Achchuthan Shanmugasundram Source NHS GMS was added to DEAF1.
Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171 for gene: DEAF1
Publications for gene: DEAF1 were updated from to 28940898; 30923367; 26048982; 24726472; 26834045
Fetal anomalies v4.34 DDX6 Achchuthan Shanmugasundram Source NHS GMS was added to DDX6.
Source Expert Review Red was added to DDX6.
Mode of inheritance for gene DDX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 for gene: DDX6
Publications for gene: DDX6 were updated from to 31422817
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 D2HGDH Achchuthan Shanmugasundram gene: D2HGDH was added
gene: D2HGDH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, OMIM:600721
Fetal anomalies v4.34 CYBB Achchuthan Shanmugasundram gene: CYBB was added
gene: CYBB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CYBB 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: CYBB were set to 16795136; 33082562
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, OMIM:306400
Fetal anomalies v4.34 CWF19L1 Achchuthan Shanmugasundram gene: CWF19L1 was added
gene: CWF19L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 27016154
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127
Fetal anomalies v4.34 CTNNA2 Achchuthan Shanmugasundram gene: CTNNA2 was added
gene: CTNNA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Fetal anomalies v4.34 COLGALT1 Achchuthan Shanmugasundram gene: COLGALT1 was added
gene: COLGALT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLGALT1 were set to 31759980; 30412317; 33709034
Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, MIM# 618360
Fetal anomalies v4.34 COL9A3 Achchuthan Shanmugasundram Source NHS GMS was added to COL9A3.
Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stickler syndrome, type VI, OMIM:620022 for gene: COL9A3
Publications for gene: COL9A3 were updated from to 15551337; 31090205; 25381065; 24273071; 33570243; 30450842
Fetal anomalies v4.34 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503
Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155
Fetal anomalies v4.34 COL25A1 Achchuthan Shanmugasundram Source NHS GMS was added to COL25A1.
Source Expert Review Red was added to COL25A1.
Added phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 for gene: COL25A1
Publications for gene: COL25A1 were updated from to 26437029; 35077597
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 COA7 Achchuthan Shanmugasundram gene: COA7 was added
gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387
Fetal anomalies v4.34 CLTC Achchuthan Shanmugasundram Source NHS GMS was added to CLTC.
Mode of inheritance for gene CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLTC were updated from 33743358 to 33743358; 26822784; 31776469; 34230591; 29100083
Fetal anomalies v4.34 CLMP Achchuthan Shanmugasundram Source NHS GMS was added to CLMP.
Source Expert Review Red was added to CLMP.
Added phenotypes Congenital short bowel syndrome, OMIM:615237 for gene: CLMP
Publications for gene: CLMP were updated from to 22155368
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 CITED2 Achchuthan Shanmugasundram gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 16287139; 29536580; 33706167; 31515672; 11694877; 33439552
Phenotypes for gene: CITED2 were set to Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease
Fetal anomalies v4.34 CFAP52 Achchuthan Shanmugasundram gene: CFAP52 was added
gene: CFAP52 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 33139725; 25469542
Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607
Fetal anomalies v4.34 CFAP45 Achchuthan Shanmugasundram gene: CFAP45 was added
gene: CFAP45 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608
Fetal anomalies v4.34 CEP85L Achchuthan Shanmugasundram gene: CEP85L was added
gene: CEP85L was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant, OMIM:618873
Fetal anomalies v4.34 CAPN15 Achchuthan Shanmugasundram gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Fetal anomalies v4.34 CALCRL Achchuthan Shanmugasundram Source Expert Review Amber was added to CALCRL.
Source NHS GMS was added to CALCRL.
Publications for gene: CALCRL were updated from 30115739; 16537897 to 33082562; 30115739; 16537897
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 CACNA1A Achchuthan Shanmugasundram Source NHS GMS was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 for gene: CACNA1A
Publications for gene: CACNA1A were updated from to 27476654
Fetal anomalies v4.34 C2orf69 Achchuthan Shanmugasundram gene: C2orf69 was added
gene: C2orf69 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 33945503; 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Fetal anomalies v4.34 BRF1 Achchuthan Shanmugasundram gene: BRF1 was added
gene: BRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 27748960; 25561519
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, OMIM:616202
Fetal anomalies v4.34 BRD4 Achchuthan Shanmugasundram gene: BRD4 was added
gene: BRD4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD4 were set to 34035299; 30302754; 29379197; 11997514
Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome 6, OMIM:620568
Fetal anomalies v4.34 BRCA1 Achchuthan Shanmugasundram Source Expert Review Amber was added to BRCA1.
Source NHS GMS was added to BRCA1.
Added phenotypes Fanconi anaemia, complementation group S, OMIM:617883 for gene: BRCA1
Publications for gene: BRCA1 were updated from to 29712865; 29133208; 34680915
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, OMIM:619641
Fetal anomalies v4.34 AUTS2 Achchuthan Shanmugasundram Source NHS GMS was added to AUTS2.
Mode of inheritance for gene AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AUTS2 were updated from to 23332918; 25205402; 31474318
Fetal anomalies v4.34 ATP6V1B2 Achchuthan Shanmugasundram Source NHS GMS was added to ATP6V1B2.
Source Expert Review Red was added to ATP6V1B2.
Mode of inheritance for gene ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 for gene: ATP6V1B2
Publications for gene: ATP6V1B2 were updated from to 28396750; 24913193; 25915598
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ATP1A3 Achchuthan Shanmugasundram Source Expert Review Amber was added to ATP1A3.
Source NHS GMS was added to ATP1A3.
Mode of inheritance for gene ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Polymicrogyria; Developmental and epileptic encephalopathy 99, OMIM:619606 for gene: ATP1A3
Publications for gene: ATP1A3 were updated from to 33880529; 33762331
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 ATP11C Achchuthan Shanmugasundram gene: ATP11C was added
gene: ATP11C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP11C were set to 33082562
Phenotypes for gene: ATP11C were set to ?Hemolytic anemia, congenital, X-linked, OMIM:301015
Fetal anomalies v4.34 ATN1 Achchuthan Shanmugasundram gene: ATN1 was added
gene: ATN1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498; 34212383
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Fetal anomalies v4.34 ATAD1 Achchuthan Shanmugasundram gene: ATAD1 was added
gene: ATAD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 29390050; 29659736; 28180185
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, OMIM:618011
Fetal anomalies v4.34 ASXL2 Achchuthan Shanmugasundram Source NHS GMS was added to ASXL2.
Mode of inheritance for gene ASXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Publications for gene: ASXL2 were updated from to 27693232; 33751773
Fetal anomalies v4.34 ARL3 Achchuthan Shanmugasundram gene: ARL3 was added
gene: ARL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:618161
Fetal anomalies v4.34 ARID2 Achchuthan Shanmugasundram Source NHS GMS was added to ARID2.
Mode of inheritance for gene ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coffin-Siris syndrome 6, OMIM:617808 for gene: ARID2
Publications for gene: ARID2 were updated from to 28884947; 26238514; 35813374; 30838730; 28124119; 29698805
Fetal anomalies v4.34 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARF1 were set to 28868155; 34353862
Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, OMIM:618185
Fetal anomalies v4.34 APC2 Achchuthan Shanmugasundram gene: APC2 was added
gene: APC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677
Fetal anomalies v4.34 ANKRD17 Achchuthan Shanmugasundram gene: ANKRD17 was added
gene: ANKRD17 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to multiple congenital malformations; Chopra-Amiel-Gordon syndrome, OMIM:619504
Fetal anomalies v4.34 ANKLE2 Achchuthan Shanmugasundram gene: ANKLE2 was added
gene: ANKLE2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKLE2 were set to 31735666; 25259927; 30214071
Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, OMIM:616681
Fetal anomalies v4.34 ANGPT2 Achchuthan Shanmugasundram Source NHS GMS was added to ANGPT2.
Mode of inheritance for gene ANGPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes hydrops fetalis, MONDO:0015193 for gene: ANGPT2
Fetal anomalies v4.34 AMBRA1 Achchuthan Shanmugasundram Source NHS GMS was added to AMBRA1.
Source Expert Review Red was added to AMBRA1.
Publications for gene: AMBRA1 were updated from 17589504; 32333458 to 32333458; 17589504
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ALPK3 Achchuthan Shanmugasundram gene: ALPK3 was added
gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950; 28630369
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Fetal anomalies v4.34 ALG14 Achchuthan Shanmugasundram gene: ALG14 was added
gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036
Fetal anomalies v4.34 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 36263470
Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025
Fetal anomalies v4.34 ALB Achchuthan Shanmugasundram gene: ALB was added
gene: ALB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALB were set to 31057599; 15300429; 23730173
Phenotypes for gene: ALB were set to Analbuminemia, OMIM:616000
Fetal anomalies v4.34 AIMP1 Achchuthan Shanmugasundram Source NHS GMS was added to AIMP1.
Source Expert Review Red was added to AIMP1.
Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1
Publications for gene: AIMP1 were updated from to 32531460; 33402283; 21092922; 24958424; 30477741; 30486714; 26173967
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 AFF3 Achchuthan Shanmugasundram Source NHS GMS was added to AFF3.
Mode of inheritance for gene AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes KINSSHIP syndrome, OMIM:619297 for gene: AFF3
Publications for gene: AFF3 were updated from to 31388108; 33961779
Fetal anomalies v4.34 ADCY6 Achchuthan Shanmugasundram gene: ADCY6 was added
gene: ADCY6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 33820833; 26257172; 24319099; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM:616287; MONDO:0014570
Fetal anomalies v4.34 ADAMTS19 Achchuthan Shanmugasundram gene: ADAMTS19 was added
gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321; 32323311
Phenotypes for gene: ADAMTS19 were set to Cardiac valvular dysplasia 2, OMIM:620067
Fetal anomalies v4.34 ACVRL1 Achchuthan Shanmugasundram Source NHS GMS was added to ACVRL1.
Mode of inheritance for gene ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were updated from 27381467; 32170914 to 21988128; 26126400; 27381467; 32170914
Fetal anomalies v4.34 ACVR1 Achchuthan Shanmugasundram Source NHS GMS was added to ACVR1.
Mode of inheritance for gene ACVR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fibrodysplasia ossificans progressiva, OMIM:135100 for gene: ACVR1
Publications for gene: ACVR1 were updated from to 16642017; 29089047
Fetal anomalies v4.34 ACSL4 Achchuthan Shanmugasundram Source NHS GMS was added to ACSL4.
Source Expert Review Red was added to ACSL4.
Added phenotypes Mental retardation, X-linked 63 , OMIM:300387 for gene: ACSL4
Publications for gene: ACSL4 were updated from to 12525535
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34866177; 34489854; 34587489
Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, OMIM:619735
Parkinson Disease and Complex Parkinsonism v1.126 ARSA Sarah Leigh Publications for gene: ARSA were set to 37381728; 31312839
Parkinson Disease and Complex Parkinsonism v1.125 ARSA Sarah Leigh Phenotypes for gene: ARSA were changed from to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591
Adult onset dystonia, chorea or related movement disorder v4.3 ARSA Sarah Leigh Phenotypes for gene: ARSA were changed from Metachromatic leukodystrophy, OMIM:250100 to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591
Parkinson Disease and Complex Parkinsonism v1.124 ARSA Sarah Leigh Classified gene: ARSA as Amber List (moderate evidence)
Parkinson Disease and Complex Parkinsonism v1.124 ARSA Sarah Leigh Gene: arsa has been classified as Amber List (Moderate Evidence).
Parkinson Disease and Complex Parkinsonism v1.123 ARSA Sarah Leigh Publications for gene: ARSA were set to PMID: 37381728 PMID: 31312839 PMID: 31312839
Parkinson Disease and Complex Parkinsonism v1.122 ARSA Sarah Leigh Classified gene: ARSA as Green List (high evidence)
Parkinson Disease and Complex Parkinsonism v1.122 ARSA Sarah Leigh Gene: arsa has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v4.2 ARSA Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSA.
Adult onset dystonia, chorea or related movement disorder v4.2 ARSA Sarah Leigh Publications for gene: ARSA were set to 20301334
Adult onset dystonia, chorea or related movement disorder v4.1 ARSA Sarah Leigh reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.14 ARSA Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ARSA.
Tag Q3_24_NHS_review tag was added to gene: ARSA.
Hereditary neuropathy or pain disorder v5.14 ARSA Sarah Leigh Publications for gene: ARSA were set to
Hereditary neuropathy or pain disorder v5.13 ARSA Sarah Leigh reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1670590, 9600244, 1673291, 1684088; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.13 ARSA Sarah Leigh Phenotypes for gene: ARSA were changed from Severe late infantile form with mental retardation and severe course. Regression before 30 months; adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy; Metachromatic leukodystrophy, 250100 to Metachromatic leukodystrophy, OMIM:250100; metachromatic leukodystrophy, juvenile form, MONDO:0009591
Hereditary neuropathy or pain disorder v5.12 APTX Sarah Leigh Tag Q3_24_promote_green tag was added to gene: APTX.
Tag Q3_24_NHS_review tag was added to gene: APTX.
Hereditary neuropathy or pain disorder v5.12 APTX Sarah Leigh reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v5.12 APTX Sarah Leigh Publications for gene: APTX were set to 11176957
Hereditary neuropathy or pain disorder v5.11 APTX Sarah Leigh Phenotypes for gene: APTX were changed from Hereditary Neuropathies; ATAXIA WITH OCULOMOTOR APRAXIA 1; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, OMIM:208920; ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, MONDO:0008842
Severe microcephaly v6.4 DPP6 Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER
Severe microcephaly v6.4 DPP6 Sarah Leigh edited their review of gene: DPP6: Changed rating: RED
Severe microcephaly v6.4 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will made red.
Severe microcephaly v6.4 DPP6 Sarah Leigh Classified gene: DPP6 as Red List (low evidence)
Severe microcephaly v6.4 DPP6 Sarah Leigh Gene: dpp6 has been classified as Red List (Low Evidence).
Intellectual disability v7.22 DPP6 Sarah Leigh Classified gene: DPP6 as Red List (low evidence)
Intellectual disability v7.22 DPP6 Sarah Leigh Gene: dpp6 has been classified as Red List (Low Evidence).
Intellectual disability v7.21 DPP6 Sarah Leigh Classified gene: DPP6 as Red List (low evidence)
Intellectual disability v7.21 DPP6 Sarah Leigh Gene: dpp6 has been classified as Red List (Low Evidence).
Intellectual disability v7.20 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain red.
Severe microcephaly v6.3 DPP6 Sarah Leigh Tag Q3_24_promote_green was removed from gene: DPP6.
Tag Q3_24_expert_review was removed from gene: DPP6.
Intellectual disability v7.20 DPP6 Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER
Severe microcephaly v6.3 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.
Severe microcephaly v6.3 DPP6 Sarah Leigh edited their review of gene: DPP6: Changed rating: AMBER
Intellectual disability v7.20 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
The ClinGen Gene-Disease Validity score for this gene is "Disputed" (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_3d41cebe-5490-419d-882d-4f3c6856be07-2021-05-05T160000.000Z), therefore, this gene will remain amber.
Severe microcephaly v6.3 DPP6 Sarah Leigh Deleted their comment
Intellectual disability v7.20 DPP6 Sarah Leigh Tag Q3_24_promote_green was removed from gene: DPP6.
Tag Q3_24_expert_review was removed from gene: DPP6.
Intellectual disability v7.20 DPP6 Sarah Leigh Deleted their comment
Intellectual disability v7.20 DPP6 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DPP6.
Tag Q3_24_expert_review tag was added to gene: DPP6.
Severe microcephaly v6.3 DPP6 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: DPP6.
Tag Q3_24_expert_review tag was added to gene: DPP6.
Intellectual disability v7.20 DPP6 Sarah Leigh Classified gene: DPP6 as Amber List (moderate evidence)
Intellectual disability v7.20 DPP6 Sarah Leigh Added comment: Comment on list classification: Although only two DPP6 variants have so far been associated with OMIM:616311 (PMID:23832105), I feel that the mouse model evidence from three studies provides evidence to support the association between DPP6 variants and microcephaly and intellectual disability (PMID: 21943606; 23832105; 29651237).
Intellectual disability v7.20 DPP6 Sarah Leigh Gene: dpp6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v6.3 DPP6 Sarah Leigh Classified gene: DPP6 as Amber List (moderate evidence)
Severe microcephaly v6.3 DPP6 Sarah Leigh Added comment: Comment on list classification: Although only two DPP6 variants have so far been associated with OMIM:616311 (PMID:23832105), I feel that the mouse model evidence from three studies provides evidence to support the association between DPP6 variants and microcephaly and intellectual disability (PMID: 21943606; 23832105; 29651237).
Severe microcephaly v6.3 DPP6 Sarah Leigh Gene: dpp6 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.19 DPP6 Sarah Leigh Publications for gene: DPP6 were set to 23832105
Severe microcephaly v6.2 DPP6 Sarah Leigh Publications for gene: DPP6 were set to 23832105
Intellectual disability v7.18 DPP6 Sarah Leigh edited their review of gene: DPP6: Added comment: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; Changed rating: GREEN
Severe microcephaly v6.1 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
Severe microcephaly v6.1 DPP6 Sarah Leigh changed review comment from: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviors characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).; to: DPP6 variants have been associated with Intellectual developmental disorder, autosomal dominant 33 in OMIM (#: 616311), but not with a phenotype in Gen2Phen. To date two monoallelic variants have been associated with OMIM: 616311 in two unrelated families, where the affected individuals all had microcephaly and intellectual disability (PMID:23832105). Various Dpp6 knock-down mouse models, showed that these mice had significantly lower body and brain weights in comparison to wildtype and displayed behaviours characteristic of reduced learning abilities and impaired memory (PMID: 21943606; 23832105; 29651237).
Severe microcephaly v6.1 DPP6 Sarah Leigh reviewed gene: DPP6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v7.18 PLEKHG2 Sarah Leigh Tag watchlist was removed from gene: PLEKHG2.
Tag Q3_24_promote_green tag was added to gene: PLEKHG2.
Intellectual disability v7.18 PLEKHG2 Sarah Leigh changed review comment from: Three biallelic PLEKHG2 missense variants have been identified in three unrelated families with individuals who have neurological disorders (PMID: 26539891, 26573021, 34326120).; to: Three biallelic PLEKHG2 missense variants have been identified in three unrelated families, in individuals who have Leukodystrophy and acquired microcephaly with or without dystonia (OMIM:616763)(PMID: 26539891, 26573021, 34326120). Segregation of the variant and the condition has been demonstrated in two of these families (PMID: 26573021, 34326120) and functional studies show that although PLEKHG2 gene expression is not affected, the resultant variant peptide has a reduced effect (PMID: 26573021, 35203342).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 IL27RA Boaz Palterer gene: IL27RA was added
gene: IL27RA was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IL27RA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL27RA were set to 38509369
Phenotypes for gene: IL27RA were set to Severe EBV infection
Penetrance for gene: IL27RA were set to unknown
Review for gene: IL27RA was set to RED
Added comment: Martin et al described 3 patients from two kindreds with homozygous IL27RA deficiency, presenting with severe primo EBV infection. Extensive ex vivo and in vitro data, including mice model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 TMEFF1 Boaz Palterer gene: TMEFF1 was added
gene: TMEFF1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: TMEFF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEFF1 were set to 39048823; 39048830
Phenotypes for gene: TMEFF1 were set to Herpes encephalitis; HSE
Penetrance for gene: TMEFF1 were set to unknown
Review for gene: TMEFF1 was set to GREEN
Added comment: Chan et al described 2 patients from unrelated kindreds with homozygous LOF variants in TMEFF1 presenting with HSE. Extensive ex vivo and in vitro data, including mice model.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 FLT3LG Boaz Palterer gene: FLT3LG was added
gene: FLT3LG was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: FLT3LG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLT3LG were set to 38701783
Phenotypes for gene: FLT3LG were set to Immunodeficiency; warts
Penetrance for gene: FLT3LG were set to unknown
Review for gene: FLT3LG was set to AMBER
Added comment: Momenilandi et al. described three patients homozygous for a loss-of-function FLT3LG variant, with a history of various recurrent infections, including severe cutaneous warts. Extensive functional ex vivo and in vitro data.
Sources: Literature
Ectodermal dysplasia v3.29 FOSL2 Dmitrijs Rots gene: FOSL2 was added
gene: FOSL2 was added to Ectodermal dysplasia. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to PMID: 36197437
Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome
Mode of pathogenicity for gene: FOSL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: FOSL2 was set to GREEN
Added comment: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with NDD and aplasia cutis and truncating variants in the last exon of FOSL2.
Sources: Literature
Intellectual disability v7.18 FOSL2 Dmitrijs Rots changed review comment from: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with truncating variants in the last exon of FOSL2.
Sources: Literature; to: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with NDD and aplasia cutis and truncating variants in the last exon of FOSL2.
Sources: Literature
Intellectual disability v7.18 FOSL2 Dmitrijs Rots gene: FOSL2 was added
gene: FOSL2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to PMID: 36197437
Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome
Mode of pathogenicity for gene: FOSL2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: FOSL2 was set to GREEN
Added comment: Already in OMIM as Aplasia cutis-enamel dysplasia syndrome. PMID: 36197437 described 10 cases with truncating variants in the last exon of FOSL2.
Sources: Literature
Intellectual disability v7.18 PLEKHG2 Sarah Leigh reviewed gene: PLEKHG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.18 PLEKHG2 Sarah Leigh Phenotypes for gene: PLEKHG2 were changed from Leukodystrophy and acquired microcephaly with or without dystonia, 616763 to Leukodystrophy and acquired microcephaly with or without dystonia, OMIM:616763; leukodystrophy and acquired microcephaly with or without dystonia; MONDO:0014766
Intellectual disability v7.17 PLEKHG2 Sarah Leigh Publications for gene: PLEKHG2 were set to 26539891; 24001768; 26573021; 35203342
Intellectual disability v7.16 PLEKHG2 Sarah Leigh Publications for gene: PLEKHG2 were set to 26539891; 24001768; 26573021
Intellectual disability v7.15 PLEKHG2 Sarah Leigh Mode of inheritance for gene: PLEKHG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.14 CIAO1 Sarah Leigh Entity copied from Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37
Intellectual disability v7.14 CIAO1 Sarah Leigh gene: CIAO1 was added
gene: CIAO1 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Q3_24_promote_green, Q3_24_NHS_review tags were added to gene: CIAO1.
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to CIAO1 associated neuromuscular disorder
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 CIAO1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CIAO1.
Tag Q3_24_NHS_review tag was added to gene: CIAO1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 CIAO1 Sarah Leigh reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.37 CIAO1 Sarah Leigh Phenotypes for gene: CIAO1 were changed from myopathy to CIAO1 associated neuromuscular disorder
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 CIAO1 Sarah Leigh Classified gene: CIAO1 as Amber List (moderate evidence)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.36 CIAO1 Sarah Leigh Gene: ciao1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.13 FIBP Sarah Leigh changed review comment from: FIBP variants have been associated with Thauvin-Robinet-Faivre syndrome in OMIM (OMIM:617107) and Gen2Phen rate this gene as having a moderate association with FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome). To date, three biallelic FIBP variants have been reported in three unrelated patients with Thauvin-Robinet-Faivre syndrome, the variant segregated with the condition in each of these families (PMID: 26660953; 27183861; 37876348).; to: FIBP variants have been associated with Thauvin-Robinet-Faivre syndrome in OMIM (OMIM:617107) and Gen2Phen rate this gene as having a moderate association with FIBP-related overgrowth syndrome with developmental delay (Thauvin-Robinet-Faivre syndrome). To date, three biallelic FIBP variants have been reported in three unrelated patients with Thauvin-Robinet-Faivre syndrome, the variant segregated with the condition in each of these families (PMID: 26660953; 27183861; 37876348). The variant reported in PMID: 37876348 & 37218527 may result in a frameshift and termination, if the wild type splice site is used. However, if the splice site in the duplicated sequence is used, the variant may not be pathogenic as the coding sequence would not altered, expression studies would reveal the mechanism.
Intellectual disability v7.13 FIBP Sarah Leigh Tag Q3_24_promote_green tag was added to gene: FIBP.
Tag Q3_24_NHS_review tag was added to gene: FIBP.
Intellectual disability v7.13 FIBP Sarah Leigh reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v7.13 FIBP Sarah Leigh Phenotypes for gene: FIBP were changed from Thauvin-Robinet-Faivre syndrome, 617107 to Thauvin-Robinet-Faivre syndrome, OMIM:617107; tall stature-intellectual disability-renal anomalies syndrome, MONDO:0014918
Intellectual disability v7.12 FIBP Sarah Leigh Publications for gene: FIBP were set to 26660953; 27183861
Early onset or syndromic epilepsy v6.3 CUX1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: CUX1.
Tag Q3_24_NHS_review tag was added to gene: CUX1.
Early onset or syndromic epilepsy v6.3 CUX1 Sarah Leigh Classified gene: CUX1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v6.3 CUX1 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be green on this panel.
Early onset or syndromic epilepsy v6.3 CUX1 Sarah Leigh Gene: cux1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v6.2 CUX1 Sarah Leigh gene: CUX1 was added
gene: CUX1 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: CUX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CUX1 were set to 37644171
Phenotypes for gene: CUX1 were set to Global developmental delay with or without impaired intellectual development, OMIM:618330; global developmental delay with or without impaired intellectual development, MONDO:0032680
Review for gene: CUX1 was set to GREEN
Added comment: Variants in CUX1 have been associated with Global developmental delay with or without impaired intellectual development (OMIM:618330). PMID: 37644171 reports epileptic seizures in 8/34 individuals carrying different CUX1 variants (supplementary table 1).
Sources: Literature
Adult onset leukodystrophy v5.1 ABCD1 Lucy Jackson reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Ehlers Danlos syndrome with a likely monogenic cause v3.18 THBS2 Arina Puzriakova Classified gene: THBS2 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v3.18 THBS2 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber as this is the rating that has been supported by specialists but additional cases required before this gene can be considered as diagnostic-grade.
Ehlers Danlos syndrome with a likely monogenic cause v3.18 THBS2 Arina Puzriakova Gene: thbs2 has been classified as Amber List (Moderate Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v3.17 THBS2 Arina Puzriakova Phenotypes for gene: THBS2 were changed from ?Ehlers-Danlos syndrome, classic-like, 3 , OMIM:620865 to ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865
Thoracic aortic aneurysm or dissection (GMS) v3.17 THBS2 Arina Puzriakova Phenotypes for gene: THBS2 were changed from aortic dilatation and rupture; prolonged bleeding time; atrophic scarring, joint hypermobility and frequent joint dislocations to ?Ehlers-Danlos syndrome, classic-like, 3, OMIM:620865
Ehlers Danlos syndrome with a likely monogenic cause v3.16 THBS2 Arina Puzriakova Phenotypes for gene: THBS2 were changed from vascular phenotype; joint hypermobility, tendon rupture, joint dislocations; prolonged bleeding; atrophic scarring, aortopathy to ?Ehlers-Danlos syndrome, classic-like, 3 , OMIM:620865
Severe early-onset obesity v4.10 TRPC5 Dmitrijs Rots changed review comment from: The study describes: Male TRPC5 deletion carriers exhibited food seeking, obesity, anxiety, and autism, which were recapitulated in knockin male mice harboring a human loss-of-function TRPC5 mutation. Women carrying TRPC5 deletions had severe postpartum depression.
Sources: Literature; to: The study describes multiple individuals with TRPC5 pathogenic variants (deletions and missense) with functional validation of missense and mouse model: Male TRPC5 deletion carriers exhibited food seeking, obesity, anxiety, and autism, which were recapitulated in knockin male mice harboring a human loss-of-function TRPC5 mutation. Women carrying TRPC5 deletions had severe postpartum depression.
Sources: Literature
Severe early-onset obesity v4.10 TRPC5 Dmitrijs Rots gene: TRPC5 was added
gene: TRPC5 was added to Severe early-onset obesity. Sources: Literature
Mode of inheritance for gene: TRPC5 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: TRPC5 were set to PMID: 38959890
Phenotypes for gene: TRPC5 were set to obesity
Review for gene: TRPC5 was set to GREEN
Added comment: The study describes: Male TRPC5 deletion carriers exhibited food seeking, obesity, anxiety, and autism, which were recapitulated in knockin male mice harboring a human loss-of-function TRPC5 mutation. Women carrying TRPC5 deletions had severe postpartum depression.
Sources: Literature
Hereditary neuropathy v1.489 SPTLC2 Dmitrijs Rots reviewed gene: SPTLC2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 38041679, 38041684; Phenotypes: ALS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 ACTN2 Dmitrijs Rots edited their review of gene: ACTN2: Changed publications to: PMID: 34471957, 30701273, 30900782, 38311799
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 TNNI1 Dmitrijs Rots gene: TNNI1 was added
gene: TNNI1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TNNI1 were set to PMID: 38569017
Review for gene: TNNI1 was set to GREEN
Added comment: The study describes: "We identified recessive loss-of-function TNNI1 variants as well as dominant gain-of-function TNNI1 variants as a cause of muscle disease, each with distinct physiological consequences and disease mechanisms. We identified three families with biallelic TNNI1 variants (F1: p.R14H/c.190-9G>A, F2 and F3: homozygous p.R14C), resulting in loss of function, manifesting with early-onset progressive muscle weakness and rod formation on histology. We also identified two families with a dominantly acting heterozygous TNNI1 variant (F4: p.R174Q and F5: p.K176del), resulting in gain of function, manifesting with muscle cramping, myalgias, and rod formation in F5."
Sources: Literature
Pigmentary skin disorders v3.12 LZTR1 Dmitrijs Rots reviewed gene: LZTR1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.gim.2024.101241; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.11 CRELD1 Dmitrijs Rots gene: CRELD1 was added
gene: CRELD1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CRELD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRELD1 were set to PMID: 37947183
Review for gene: CRELD1 was set to GREEN
Added comment: The papers reports:
Biallelic variants in CRELD1 were found in 18 participants from 14 families. Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections.
Sources: Literature
DDG2P v4.8 CRELD1 Dmitrijs Rots reviewed gene: CRELD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37947183; Phenotypes: ; Mode of inheritance: None
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 SNUPN Dmitrijs Rots gene: SNUPN was added
gene: SNUPN was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to 38413582
Phenotypes for gene: SNUPN were set to muscular dystrophy
Review for gene: SNUPN was set to GREEN
Added comment: The study reports:"18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects"
Sources: Literature
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 SRPK3 Dmitrijs Rots gene: SRPK3 was added
gene: SRPK3 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: SRPK3 was set to Other
Publications for gene: SRPK3 were set to 38429495
Review for gene: SRPK3 was set to GREEN
Added comment: multiple cases with: "that predicted deleterious variants in SRPK3, encoding the X-linked serine/argenine protein kinase 3, lead to a progressive early onset skeletal muscle myopathy only when in combination with heterozygous variants in the TTN gene."
Sources: Literature
Congenital myopathy v4.39 SRPK3 Dmitrijs Rots reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 38429495; Phenotypes: myopathy; Mode of inheritance: Other
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 CIAO1 Dmitrijs Rots gene: CIAO1 was added
gene: CIAO1 was added to Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies. Sources: Literature
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38950322
Phenotypes for gene: CIAO1 were set to myopathy
Review for gene: CIAO1 was set to GREEN
Added comment: Study reported at least 4 families with: "patients with biallelic loss of function in CIAO1 developed proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency. In addition, they presented with CNS symptoms including learning difficulties and neurobehavioral comorbidities, along with iron deposition in deep brain nuclei, mild normocytic to macrocytic anemia, and gastrointestinal symptoms.".
Sources: Literature
Skeletal dysplasia v6.1 NT5E Tracy Lester gene: NT5E was added
gene: NT5E was added to Skeletal dysplasia. Sources: NHS GMS
Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881
Phenotypes for gene: NT5E were set to arterial calcification; joint calcification
Review for gene: NT5E was set to GREEN
Added comment: Several cases have been reported in the literature with late onset calcification of the extremity arteries and hand and foot joint capsules, and biallelic variants in NT5E. Variant pathogenicity supported by familial and functional studies.
Sources: NHS GMS
Likely inborn error of metabolism v6.1 NT5E Tracy Lester gene: NT5E was added
gene: NT5E was added to Likely inborn error of metabolism. Sources: NHS GMS
Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5E were set to 26010187; 28825389; 32522903; 34999808; 38199067; 26178434; 27045881
Phenotypes for gene: NT5E were set to arterial calcification; joint calcification
Review for gene: NT5E was set to GREEN
Added comment: Several cases have been reported in the literature with late onset calcification of the extremity arteries and hand and foot joint capsules, and biallelic variants in NT5E. Variant pathogenicity supported by familial and functional studies.
Sources: NHS GMS
Ehlers Danlos syndrome with a likely monogenic cause v3.15 THBS2 Duncan Baker commented on gene: THBS2: Agree that there is sufficient evidence for this to be an amber gene. Needs additional families to upgrade.
Ehlers Danlos syndrome with a likely monogenic cause v3.15 THBS2 Duncan Baker commented on gene: THBS2
Intellectual disability v7.11 PLEKHG2 Hannah Robinson reviewed gene: PLEKHG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.8 GDF11 Achchuthan Shanmugasundram Phenotypes for gene: GDF11 were changed from GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder., OMIM:619122 to GDF11-related vertebral hypersegmentation, orofacial anomalies and neurodevelopmental disorder, OMIM:619122
Intellectual disability v7.11 SRPK3 Achchuthan Shanmugasundram Classified gene: SRPK3 as Amber List (moderate evidence)
Intellectual disability v7.11 SRPK3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39073169 reported nine individuals from 5 unrelated families reported with SRPK3 variants and X-linked intellectual disability. Of eight patients from four families that were ascertained postnatally, seven from three families had ID, while the eighth patient was reported with global developmental delay. The ninth case that was ascertained prenatally, had a complex structural brain phenotype.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.

As there is sufficient evidence available for the association of this gene to ID, this gene should be promoted to green rating in the next GMS update.
Intellectual disability v7.11 SRPK3 Achchuthan Shanmugasundram Gene: srpk3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.10 SRPK3 Achchuthan Shanmugasundram Phenotypes for gene: SRPK3 were changed from Neurodevelopmental disorder, MONDO:0700092, SRPK3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.9 SRPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SRPK3.
Intellectual disability v7.9 SRPK3 Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39073169; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v7.9 HDAC3 Achchuthan Shanmugasundram Classified gene: HDAC3 as Amber List (moderate evidence)
Intellectual disability v7.9 HDAC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39047730 reported the identification of de novo missense variants in HDAC3 gene in six unrelated individuals with neurodevelopmental disorder. Intellectual disability of varying severity was present in five of six patients (severe and moderate ID in two each and mild ID in one).

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.

This gene should be promoted to green rating in the next GMS update.
Intellectual disability v7.9 HDAC3 Achchuthan Shanmugasundram Gene: hdac3 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v5.10 ALPK3 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ALPK3.
Tag Q3_24_MOI tag was added to gene: ALPK3.
Hypertrophic cardiomyopathy v4.16 ALPK3 Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: ALPK3.
Tag Q3_24_MOI tag was added to gene: ALPK3.
Fetal hydrops v1.88 ALPK3 Sarah Leigh Publications for gene: ALPK3 were set to PMID: 33082562
Fetal hydrops v1.87 ALPK3 Sarah Leigh Mode of inheritance for gene: ALPK3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal hydrops v1.86 ALPK3 Sarah Leigh edited their review of gene: ALPK3: Added comment: Both biallelic and monoallelic ALPK3 variants are associated with hypertrophic cardiomyopathy (MONDO:0005045). The ClinGen Hereditary Cardiovascular Disease Expert Panel has classified this association as Definitive for autosomal recessive inheritance (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6312d79f-df12-4ec6-8ce6-0f38f19e617d-2022-02-09T170000.000Z?page=1&size=25&search=) and Strong for Autosomal dominant inheritance (https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_ace85164-0b70-46a2-ac6b-253088f4514d-2023-12-19T010000.000Z?page=1&size=25&search=).; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v4.16 ALPK3 Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v7.8 HDAC3 Achchuthan Shanmugasundram Phenotypes for gene: HDAC3 were changed from Neurodevelopmental disorder, MONDO:0700092, HDAC3-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.7 HDAC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HDAC3.
Intellectual disability v7.7 HDAC3 Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39047730; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Classified gene: RBBP5 as Amber List (moderate evidence)
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39036895 reported five unrelated cases with five different heterozygous RBBP5 variants, of which four patients had developmental delay and intellectual disability (3 with severe ID and one with mild ID).

This gene has not yet been associated with relevant phenotypes wither in OMIM or in Gene2Phenotype.

This gene can be promoted to green rating in the next GMS update.
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Gene: rbbp5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Classified gene: RBBP5 as Amber List (moderate evidence)
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:39036895 reported five unrelated cases with five different heterozygous RBBP5 variants, of which four patients had developmental delay and intellectual disability (3 with severe ID and one with mild ID).

This gene has not yet been associated with relevant phenotypes wither in OMIM or in Gene2Phenotype.

This gene can be promoted to green rating in the next GMS update.
Intellectual disability v7.7 RBBP5 Achchuthan Shanmugasundram Gene: rbbp5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.6 RBBP5 Achchuthan Shanmugasundram Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.6 RBBP5 Achchuthan Shanmugasundram Phenotypes for gene: RBBP5 were changed from neurodevelopmental disorder MONDO:0700092, RBBP5-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v7.5 RBBP5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RBBP5.
Intellectual disability v7.5 RBBP5 Achchuthan Shanmugasundram reviewed gene: RBBP5: Rating: GREEN; Mode of pathogenicity: None; Publications: 39036895; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v7.5 PCBP2 Achchuthan Shanmugasundram Classified gene: PCBP2 as Amber List (moderate evidence)
Intellectual disability v7.5 PCBP2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there were three unrelated cases reported with three different variants in PMID:38965372. One of them had borderline ID, one had mild ID and two had delayed motor and speech development.

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'limited' rating on the DD panel), but not yet in OMIM.

Hence, this gene can only be rated amber with current evidence.
Intellectual disability v7.5 PCBP2 Achchuthan Shanmugasundram Gene: pcbp2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.4 PCBP2 Achchuthan Shanmugasundram Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder, MONDO:0700092 to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v7.4 PCBP2 Achchuthan Shanmugasundram Phenotypes for gene: PCBP2 were changed from neurodevelopmental disorder MONDO:0700092, PCBP2-related to neurodevelopmental disorder, MONDO:0700092
Intellectual disability v7.3 PCBP2 Achchuthan Shanmugasundram reviewed gene: PCBP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 38965372; Phenotypes: neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v5.10 ALPK3 Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.10 ALPK3 Sarah Leigh Publications for gene: ALPK3 were set to
Paediatric or syndromic cardiomyopathy v5.9 TAF1A Sarah Leigh Classified gene: TAF1A as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v5.9 TAF1A Sarah Leigh Gene: taf1a has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v5.8 TAF1A Sarah Leigh Added comment: Comment on phenotypes: PMID: 27878435 reports Congenital cataract and global developmental delay
Paediatric or syndromic cardiomyopathy v5.8 TAF1A Sarah Leigh Phenotypes for gene: TAF1A were changed from Congenital cataract and global developmental delay to Paediatric dilated cardiomyopathy
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: TAF1A.
Tag Q3_24_NHS_review tag was added to gene: TAF1A.
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh edited their review of gene: TAF1A: Added comment: Biallelic TAF1A variants have been associated with dilated cardiomyopathy. To date, five missense TAF1A variants and a 1.62Mb deletion (that includes the TAF1A gene) have been reported in three unrelated cases of childhood dilated cardiomyopathy (PMIDs 28472305; 29367541; 37501913, personal communication from Genomics Clinical Fellow). The unaffected parents of these cases were all heterozygous for the relevant TAF1A variant. A stable knockout of the single taf1a zebrafish homolog, was used to generate homozygous embryos, which mirrored the heart failure phenotype beginning at 6 days post-fertilization (PMID: 28472305).; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh changed review comment from: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018; to: Comment on publications: The case reported in PMID: 37501913, seems to be the same patient that has been reported in an abstract from from the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018
NICE approved PARP inhibitor treatment v0.3 Achchuthan Shanmugasundram List of related panels changed from to R444
NICE approved PARP inhibitor treatment v0.2 BRCA2 Achchuthan Shanmugasundram gene: BRCA2 was added
gene: BRCA2 was added to NICE approved PARP inhibitor treatment. Sources: NHS GMS
Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA2 were set to {Breast-ovarian cancer, familial, 2}, OMIM:612555; {Breast cancer, male, susceptibility to}, OMIM:114480; {Prostate cancer}, OMIM:176807
Review for gene: BRCA2 was set to GREEN
Added comment: BRCA2 has been added to the panel for R444 NICE approved PARP inhibitor treatment with a green rating as agreed with the NHS Genomic Medicine Service.
Sources: NHS GMS
Bilateral congenital or childhood onset cataracts v5.2 TAF1A Sarah Leigh Publications for gene: TAF1A were set to 27878435
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh Added comment: Comment on publications: An abstract from Abstracts for the International Clinical Cardiovascular Genetics Meeting, 12-13 May 2022, Brisbane, Australia: https://doi.org/10.1016/j.hlc.2022.04.018
Paediatric or syndromic cardiomyopathy v5.7 TAF1A Sarah Leigh Publications for gene: TAF1A were set to 27878435
Paediatric or syndromic cardiomyopathy v5.6 TAF1A Sarah Leigh Entity copied from Bilateral congenital or childhood onset cataracts v5.1
Paediatric or syndromic cardiomyopathy v5.6 TAF1A Sarah Leigh gene: TAF1A was added
gene: TAF1A was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1A were set to 27878435
Phenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay
NICE approved PARP inhibitor treatment v0.1 BRCA1 Achchuthan Shanmugasundram gene: BRCA1 was added
gene: BRCA1 was added to NICE approved PARP inhibitor treatment. Sources: NHS GMS
Mode of inheritance for gene: BRCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: BRCA1 were set to {Breast-ovarian cancer, familial, 1}, OMIM:604370; Fanconi anemia, complementation group S, OMIM:617883
Review for gene: BRCA1 was set to GREEN
Added comment: BRCA1 has been added to the panel for R444 NICE approved PARP inhibitor treatment with a green rating as agreed with the NHS Genomic Medicine Service.
Sources: NHS GMS
NICE approved PARP inhibitor treatment v0.0 Achchuthan Shanmugasundram Added Panel NICE approved PARP inhibitor treatment
Set panel types to: GMS Rare Disease
Paediatric disorders - additional genes v5.5 MYH11 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MYH11.
Gastrointestinal neuromuscular disorders v1.29 MYH11 Sarah Leigh Classified gene: MYH11 as Green List (high evidence)
Gastrointestinal neuromuscular disorders v1.29 MYH11 Sarah Leigh Gene: myh11 has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disorders v1.28 MYH11 Sarah Leigh edited their review of gene: MYH11: Added comment: Biallelic MYH11 variants have been associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (OMIM:619351), and as limited Gen2Phen gene for the same condition. PMIDs 29575632 & 29575632 report five MYH11 variants in three unrelated cases of OMIM:619351. The unaffected parents of these cases were heterozygous for the MYH11 variant.; Changed rating: GREEN
Paediatric disorders - additional genes v5.5 MYH11 Sarah Leigh edited their review of gene: MYH11: Added comment: Biallelic MYH11 variants have been associated with Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 (OMIM:619351), and as limited Gen2Phen gene for the same condition. PMIDs 29575632 & 29575632 report five MYH11 variants in three unrelated cases of OMIM:619351. The unaffected parents of these cases were heterozygous for the MYH11 variant.; Changed rating: GREEN
Paediatric disorders - additional genes v5.5 MYH11 Sarah Leigh Publications for gene: MYH11 were set to 31944481; 29575632
Gastrointestinal neuromuscular disorders v1.28 MYH11 Sarah Leigh Publications for gene: MYH11 were set to 31944481; 29575632
Gastrointestinal neuromuscular disorders v1.27 MYH11 Sarah Leigh Mode of inheritance for gene: MYH11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes v5.4 MYH11 Sarah Leigh Mode of inheritance for gene: MYH11 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric disorders - additional genes v5.3 MYH11 Sarah Leigh Added comment: Comment on phenotypes: Monoallelic Aortic MYH11 variants are associated with: aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568 and Visceral myopathy 2, OMIM:619350, MONDO:0859157
Paediatric disorders - additional genes v5.3 MYH11 Sarah Leigh Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708
Gastrointestinal neuromuscular disorders v1.26 MYH11 Sarah Leigh Added comment: Comment on phenotypes: Monoallelic Aortic MYH11 variants are associated with: aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568 and Visceral myopathy 2, OMIM:619350, MONDO:0859157
Gastrointestinal neuromuscular disorders v1.26 MYH11 Sarah Leigh Phenotypes for gene: MYH11 were changed from Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157 to Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708
Paediatric disorders - additional genes v5.2 MYH11 Sarah Leigh Entity copied from Gastrointestinal neuromuscular disorders v1.25
Paediatric disorders - additional genes v5.2 MYH11 Sarah Leigh gene: MYH11 was added
gene: MYH11 was added to Paediatric disorders - additional genes. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: MYH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH11 were set to 31944481; 29575632
Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157
Gastrointestinal neuromuscular disorders v1.25 MYH11 Sarah Leigh Classified gene: MYH11 as Amber List (moderate evidence)
Gastrointestinal neuromuscular disorders v1.25 MYH11 Sarah Leigh Gene: myh11 has been classified as Amber List (Moderate Evidence).
Gastrointestinal neuromuscular disorders v1.24 MYH11 Sarah Leigh Phenotypes for gene: MYH11 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome, autosomal recessive; Dominant smooth muscle dysmotility syndrome to Aortic aneurysm, familial thoracic 4, OMIM:132900, MONDO:0007568; Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 OMIM:619351, MONDO:0025708; Visceral myopathy 2, OMIM:619350, MONDO:0859157
Hereditary neuropathy or pain disorder v5.10 NDC1 Sarah Leigh Classified gene: NDC1 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.10 NDC1 Sarah Leigh Gene: ndc1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.9 NDC1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: NDC1.
Tag Q3_24_NHS_review tag was added to gene: NDC1.
Tag Q3_24_MOI tag was added to gene: NDC1.
Hereditary neuropathy or pain disorder v5.9 NDC1 Sarah Leigh reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.489 NDC1 Sarah Leigh reviewed gene: NDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.489 NDC1 Sarah Leigh Classified gene: NDC1 as Green List (high evidence)
Hereditary neuropathy v1.489 NDC1 Sarah Leigh Gene: ndc1 has been classified as Green List (High Evidence).
Hereditary neuropathy v1.488 NDC1 Sarah Leigh Classified gene: NDC1 as Amber List (moderate evidence)
Hereditary neuropathy v1.488 NDC1 Sarah Leigh Gene: ndc1 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.9 LRP12 Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v5.9 LRP12 Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.487 LRP12 Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be rated in PanelApp at present.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh changed review comment from: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst.; to: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
Hereditary neuropathy or pain disorder v5.8 LRP12 Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
The LRP12_CGG variant has not been verified by Clinical Team; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, therefore, it can not be added to PanelApp at present.
Hereditary neuropathy or pain disorder v5.8 LRP12 Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380). ; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst, it can not be added to PanelApp at present.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh commented on STR: LRP12: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
Hereditary neuropathy or pain disorder v5.8 LRP12 Sarah Leigh changed review comment from: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).; to: A trinucleotide expansion LRP12_CGG variant has been reported in numerous unrelated Japanese individuals with either Amyotrophic lateral sclerosis 28, OMIM:620452 or Oculopharyngodistal myopathy 1, OMIM:164310 (PMID:39013564; 37339631; 31332380).
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Tag STR tag was added to STR: LRP12.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Tag STR tag was added to gene: LRP12.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh reviewed gene: LRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Classified STR: LRP12 as No list
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Added comment: Comment on list classification: This STR has not been approved or verified by Genomics England Clinical Team or Rare Disease Analyst.
Hereditary neuropathy v1.487 LRP12 Sarah Leigh Str: lrp12 has been removed from the panel.
Hereditary neuropathy or pain disorder v5.8 LRP12 Sarah Leigh reviewed gene: LRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v5.8 LRP12 Sarah Leigh Publications for gene: LRP12 were set to 39013564; 37339631; 31332380
Hereditary neuropathy or pain disorder v5.7 LRP12 Sarah Leigh Phenotypes for gene: LRP12 were changed from Motor axonal neuropathy to Amyotrophic lateral sclerosis 28, OMIM:620452; amyotrophic lateral sclerosis 28, MONDO:0957538; Oculopharyngodistal myopathy 1, OMIM:164310; oculopharyngodistal myopathy 1, MONDO:0020793
Hereditary neuropathy v1.486 LRP12 Sarah Leigh Publications for STR: LRP12 were set to 39013564
Hereditary neuropathy or pain disorder v5.6 LRP12 Sarah Leigh Publications for gene: LRP12 were set to 39013564; 37339631; 31332380
Hereditary neuropathy or pain disorder v5.5 LRP12 Sarah Leigh Publications for gene: LRP12 were set to 39013564
Hereditary neuropathy or pain disorder v5.4 LRP12 Sarah Leigh Tag STR tag was added to gene: LRP12.
Hereditary neuropathy v1.485 LRP12 Sarah Leigh Classified STR: LRP12 as Amber List (moderate evidence)
Hereditary neuropathy v1.485 LRP12 Sarah Leigh Str: lrp12 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy v1.484 LRP12 Sarah Leigh Publications for gene: LRP12 were set to 39013564
Hereditary neuropathy v1.483 LRP12 Sarah Leigh Classified gene: LRP12 as Amber List (moderate evidence)
Hereditary neuropathy v1.483 LRP12 Sarah Leigh Gene: lrp12 has been classified as Amber List (Moderate Evidence).
Hereditary neuropathy or pain disorder v5.4 LRP12 Sarah Leigh Entity copied from Hereditary neuropathy v1.482
Hereditary neuropathy or pain disorder v5.4 LRP12 Sarah Leigh gene: LRP12 was added
gene: LRP12 was added to Hereditary neuropathy or pain disorder. Sources: Literature
Mode of inheritance for gene: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP12 were set to 39013564
Phenotypes for gene: LRP12 were set to Motor axonal neuropathy
Hereditary neuropathy or pain disorder v5.3 MYO9B Sarah Leigh Entity copied from Hereditary neuropathy v1.482
Hereditary neuropathy or pain disorder v5.3 MYO9B Sarah Leigh gene: MYO9B was added
gene: MYO9B was added to Hereditary neuropathy or pain disorder. Sources: Literature
Mode of inheritance for gene: MYO9B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO9B were set to 36260368
Phenotypes for gene: MYO9B were set to CMT2
Penetrance for gene: MYO9B were set to Complete
Hereditary neuropathy or pain disorder v5.2 NDC1 Sarah Leigh Entity copied from Hereditary neuropathy v1.482
Hereditary neuropathy or pain disorder v5.2 NDC1 Sarah Leigh gene: NDC1 was added
gene: NDC1 was added to Hereditary neuropathy or pain disorder. Sources: Literature
Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDC1 were set to 39003500
Phenotypes for gene: NDC1 were set to demyelinating neuropathy; alacrima; achalasia
Penetrance for gene: NDC1 were set to Complete
Paediatric or syndromic cardiomyopathy v5.5 MAP3K7 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MAP3K7.
Tag Q3_24_NHS_review tag was added to gene: MAP3K7.
Paediatric or syndromic cardiomyopathy v5.5 MAP3K7 Sarah Leigh edited their review of gene: MAP3K7: Added comment: At least 15 MAP3K7 variants have been associated with Cardiospondylocarpofacial syndrome (OMIM:157800)(PMID: 35730652;34687574;29467388;27426734). The publications report that the MAP3K7 variants were de novo in 16/18 cases (one variant was inherited from the affected father and one was not maternal and the paternal sample was not available (PMID: 35730652).; Changed rating: GREEN
Paediatric or syndromic cardiomyopathy v5.5 MAP3K7 Sarah Leigh Publications for gene: MAP3K7 were set to 35730652; 34687574
Paediatric or syndromic cardiomyopathy v5.4 MAP3K7 Sarah Leigh Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137 to Cardiospondylocarpofacial syndrome, OMIM:157800
Paediatric or syndromic cardiomyopathy v5.3 MAP3K7 Sarah Leigh Classified gene: MAP3K7 as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v5.3 MAP3K7 Sarah Leigh Gene: map3k7 has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v5.2 MAP3K7 Sarah Leigh gene: MAP3K7 was added
gene: MAP3K7 was added to Paediatric or syndromic cardiomyopathy. Sources: Expert Review
Mode of inheritance for gene: MAP3K7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP3K7 were set to 35730652; 34687574
Phenotypes for gene: MAP3K7 were set to Cardiospondylocarpofacial syndrome, OMIM:157800; Frontometaphyseal dysplasia 2, OMIM:617137
Review for gene: MAP3K7 was set to AMBER
Added comment: Sources: Expert Review
Non-syndromic hypotrichosis v1.14 HR Sarah Leigh Added comment: Comment on phenotypes: Monoallleic HRURF variants are associated with Hypotrichosis 4, OMIM:146550
Non-syndromic hypotrichosis v1.14 HR Sarah Leigh Phenotypes for gene: HR were changed from Marie Unna hereditary hypotrichosis (MUHH); Alopecia universalis, OMIM:203655 to Alopecia universalis, OMIM:203655; Atrichia with papular lesions, OMIM:209500
Non-syndromic hypotrichosis v1.13 HR Sarah Leigh reviewed gene: HR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v7.3 ATXN7L3 Sarah Leigh Classified gene: ATXN7L3 as Amber List (moderate evidence)
Intellectual disability v7.3 ATXN7L3 Sarah Leigh Gene: atxn7l3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v7.2 ATXN7L3 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: ATXN7L3.
Tag Q3_24_NHS_review tag was added to gene: ATXN7L3.
Tag Q3_24_MOI tag was added to gene: ATXN7L3.
Intellectual disability v7.2 ATXN7L3 Sarah Leigh gene: ATXN7L3 was added
gene: ATXN7L3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ATXN7L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATXN7L3 were set to 38753057; 33731875
Phenotypes for gene: ATXN7L3 were set to syndromic neurodevelopmental disorder
Review for gene: ATXN7L3 was set to GREEN
Added comment: ATXN7L3 variants are not associated with a phenotype in OMIM or Gen2Phen. PMID: 38753057 reports five monoallelic ATXN7L3 variants in nine unrelated cases. The variants were de novo, where this could be established (8/9 cases). Common features in the cases were: global developmental delay (8/9), dysmorphic features (7/9), hypotonia (7/9), strabismus (4/6), abnormal brain MRI (6/8). ATXN7L3 protein levels were reduced and deubiquitylation was impaired, resulting in increased levels of histone H2Bub1 in the fibroblasts of an affected individual carrying the recurrent variant: NM_001382309.1: c.340C>T; p.(Arg114Ter). This finding was consistent with the increased H2Bub1 levels in Atxn7l3-null mouse embryos, who have developmental delay and embryonic lethality (PMID: 33731875).
Sources: Literature
Haematological malignancies cancer susceptibility v4.5 HAVCR2 Lauma Freimane edited their review of gene: HAVCR2: Added comment: PMID: 30374066
"The variant encoding p.Tyr82Cys TIM-3 occurs on a potential founder chromosome in patients with East Asian and Polynesian ancestry, while p.Ile97Met TIM-3 occurs in patients with European ancestry. Both variants induce protein misfolding and abrogate TIM-3’s plasma membrane expression, leading to persistent immune activation and increased production of inflammatory cytokines, including tumor necrosis factor-α and interleukin-1β, promoting HLH and SPTCL."; Changed publications to: PMID: 32005988, 30374066
Haematological malignancies cancer susceptibility v4.5 HAVCR2 Lauma Freimane gene: HAVCR2 was added
gene: HAVCR2 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Expert Review,Literature
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to PMID: 32005988
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like (OMIM: 618398)
Penetrance for gene: HAVCR2 were set to Incomplete
Mode of pathogenicity for gene: HAVCR2 was set to Other
Review for gene: HAVCR2 was set to GREEN
gene: HAVCR2 was marked as current diagnostic
Added comment: From PMID: 32005988:
Homozygous p.Ile97Met variant was found in subcutaneous panniculitis-like T-cell lymphoma (SPTCL) patients with European ancestry, 1 patient from North Africa, and patient from Reunion Island.
Sources: Expert list, Expert Review, Literature
Hypertrophic cardiomyopathy v4.16 KLHL24 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: KLHL24.
Tag Q3_24_NHS_review tag was added to gene: KLHL24.
Hypertrophic cardiomyopathy v4.16 KLHL24 Sarah Leigh reviewed gene: KLHL24: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hypertrophic cardiomyopathy v4.16 KLHL24 Sarah Leigh Phenotypes for gene: KLHL24 were changed from Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236; cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372
Hypertrophic cardiomyopathy v4.15 KLHL24 Sarah Leigh Classified gene: KLHL24 as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.15 KLHL24 Sarah Leigh Gene: klhl24 has been classified as Amber List (Moderate Evidence).
Osteopetrosis v1.34 TYROBP Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: TYROBP.
Tag Q3_24_demote_red tag was added to gene: TYROBP.
Tag Q3_24_expert_review tag was added to gene: TYROBP.
Osteopetrosis v1.34 TYROBP Sarah Leigh reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 CASP10 Sarah Leigh Added comment: Comment on mode of inheritance: Both monoallelic and biallelic variant have been reported (PMID: 38704374).
Primary immunodeficiency or monogenic inflammatory bowel disease v6.4 CASP10 Sarah Leigh Mode of inheritance for gene: CASP10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh Tag Q3_24_MOI tag was added to gene: CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh edited their review of gene: CASP10: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh Tag Q3_24_expert_review tag was added to gene: CASP10.
Tag Q3_24_demote_amber tag was added to gene: CASP10.
Primary immunodeficiency or monogenic inflammatory bowel disease v6.3 CASP10 Sarah Leigh Publications for gene: CASP10 were set to 25663566; 16446975; 16611303; 10412980; 21447005; 27378136; 9028957
Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 CASP10 Sarah Leigh edited their review of gene: CASP10: Added comment: PMID: 38704374, aimed to assess the impact of CASP10 variants on autoimmune lymphoproliferative syndrome (ALPS) pathogenesis, by assessing the effect of CASP10 variants within the Imagine Institute's genetic platform (INSERM UMR 1163, Paris, France). Using this large dataset, the authors were able to confirm that the missense variants p.V410I and p.Y446C, are present in the general population at a high frequency. Furthermore, these variants do not affect the CASP10 catalytic domain and no difference was observed in CASP10 protein expression or FAS-mediated apoptosis between healthy controls and subjects bearing these variants in both homozygous and heterozygous states. Two patient had the CASP10 variant p.C401LfsX15, which is lies within QACQG catalytic site in the CASP10 catalytic domain. The patient S2 was homozygous for this variant, resulting in a lack of Caspase-10 RNA and protein. However, the authors report that "FAS-mediated apoptosis was surprisingly comparable to healthy controls in each of the tested cell lines suspected to have a role in ALPS". In patient S1, who was heterozygous p.C401LfsX15, the authors report that although the levels of CASP10 protein expression was reduced, there was normal FAS-mediated apoptosis compared to healthy controls. From these results, the authors conclude that it appears that "Caspase-10 is dispensable for FAS-mediated apoptosis: an undetectable CASP10 protein expression has no impact on lymphocyte apoptosis and on individuals’ clinical and laboratory phenotype". Although they do comment, that post-translational or epigenetic mechanisms may play a role, as yet unidentified.; Changed rating: AMBER; Changed publications to: 38704374
Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 CASP10 Sarah Leigh Added comment: Comment on phenotypes: Autoimmune lymphoproliferative syndrome (ALPS); Adenopathies, splenomegaly, autoimmunity; Diseases of Immune Dysregulation
Primary immunodeficiency or monogenic inflammatory bowel disease v6.2 CASP10 Sarah Leigh Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II, 603909; Autoimmune lymphoproliferative syndrome (ALPS); Adenopathies, splenomegaly, autoimmunity; Diseases of Immune Dysregulation to Autoimmune lymphoproliferative syndrome, type II, OMIM:603909; autoimmune lymphoproliferative syndrome type 2A, MONDO:0011383
Intellectual disability v7.1 DHRSX Miel Theunis reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38821050; Phenotypes: CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Laterality disorders and isomerism v3.15 ARL2BP Sarah Leigh changed review comment from: ARL2BP variants have been associated with Retinitis pigmentosa with or without situs inversus (OMIM:615434) and as definitive Gen2Phen gene for Retinitis pigmentosa with or without situs inversus. At least five ARL2BP variants have been reported in unrelated cases of OMIM:615434 (PMID: 23849777; 27790702; 36507858; 38649918). Segregation evidence was presented from two families in PMID: 23849777. Supportive functional studies, together with a mouse model have been reported (PMID: 31425546).; to: ARL2BP variants have been associated with Retinitis pigmentosa with or without situs inversus (OMIM:615434) and as definitive Gen2Phen gene for Retinitis pigmentosa with or without situs inversus. At least five ARL2BP variants have been reported in unrelated cases of OMIM:615434 (PMID: 23849777; 27790702; 36507858; 38649918). Segregation evidence was presented from two families in PMID: 23849777. Supportive functional studies, together with a mouse model have been reported (PMID: 31425546).
Cytopenia - NOT Fanconi anaemia v3.34 RPL27 Hannah Knight reviewed gene: RPL27: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 38988374; Phenotypes: ?Diamond-Blackfan anemia 16, 617408; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Other rare neuromuscular disorders v23.8 Achchuthan Shanmugasundram Panel version 23.7 has been signed off on 2024-08-07
Childhood onset leukodystrophy v23.2 Eleanor Williams Panel version 23.1 has been signed off on 2024-08-07
Hypotonic infant v33.8 Achchuthan Shanmugasundram Panel version 33.7 has been signed off on 2024-08-07
Cerebral malformation v13.3 Eleanor Williams Panel version 13.2 has been signed off on 2024-08-07
Paediatric disorders v52.6 Eleanor Williams Panel version 52.5 has been signed off on 2024-08-07
Cystic renal disease v9.3 Arina Puzriakova Panel version 9.2 has been signed off on 2024-08-07
Unexplained death in infancy and sudden unexplained death in childhood v12.11 Achchuthan Shanmugasundram Panel version 12.10 has been signed off on 2024-08-07
Hereditary ataxia and cerebellar anomalies - childhood onset v17.3 Arina Puzriakova Panel version 17.2 has been signed off on 2024-08-07
Rare multisystem ciliopathy Super panel v16.5 Arina Puzriakova Panel version 16.4 has been signed off on 2024-08-07
Catecholaminergic polymorphic VT v4.7 Eleanor Williams Panel version 4.6 has been signed off on 2024-08-07
Brugada syndrome and cardiac sodium channel disease v3.11 Eleanor Williams Panel version 3.10 has been signed off on 2024-08-07
Arrhythmogenic right ventricular cardiomyopathy v3.12 Eleanor Williams Panel version 3.11 has been signed off on 2024-08-07
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.35 Achchuthan Shanmugasundram Panel version 4.34 has been signed off on 2024-08-07
Monogenic hearing loss v4.51 Eleanor Williams Panel version 4.50 has been signed off on 2024-08-07
Congenital myaesthenic syndrome v4.7 Achchuthan Shanmugasundram Panel version 4.6 has been signed off on 2024-08-07
Short QT syndrome v3.13 Achchuthan Shanmugasundram Panel version 3.12 has been signed off on 2024-08-07
Renal ciliopathies v3.9 Eleanor Williams Panel version 3.8 has been signed off on 2024-08-07
Progressive cardiac conduction disease v2.9 Achchuthan Shanmugasundram Panel version 2.8 has been signed off on 2024-08-07
Ophthalmological ciliopathies v4.5 Eleanor Williams Panel version 4.4 has been signed off on 2024-08-07
Long QT syndrome v3.9 Achchuthan Shanmugasundram Panel version 3.8 has been signed off on 2024-08-07
Paediatric motor neuronopathies v3.8 Eleanor Williams Panel version 3.7 has been signed off on 2024-08-07
Hypertrophic cardiomyopathy v4.14 Achchuthan Shanmugasundram Panel version 4.13 has been signed off on 2024-08-07
Dilated and arrhythmogenic cardiomyopathy v2.32 Achchuthan Shanmugasundram Panel version 2.31 has been signed off on 2024-08-07
Skeletal dysplasia v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07
Neurological segmental overgrowth v2.14 Arina Puzriakova Panel version 2.13 has been signed off on 2024-08-07
Neurological ciliopathies v4.6 Arina Puzriakova Panel version 4.5 has been signed off on 2024-08-07
Skeletal dysplasia v6.0 Eleanor Williams promoted panel to version 6.0
DDG2P v4.7 Arina Puzriakova Panel version 4.6 has been signed off on 2024-08-07
Monogenic short stature v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07
Monogenic short stature v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Monogenic short stature v0.191 Achchuthan Shanmugasundram Panel status changed from internal to public
Congenital myopathy v4.39 Arina Puzriakova Panel version 4.38 has been signed off on 2024-08-07
Hereditary neuropathy or pain disorder v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07
Hereditary neuropathy or pain disorder v5.0 Eleanor Williams promoted panel to version 5.0
Congenital muscular dystrophy v4.25 Arina Puzriakova Panel version 4.24 has been signed off on 2024-08-07
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.8 Achchuthan Shanmugasundram Panel status changed from internal to public
Diagnostic testing for Isovaleric acidaemia v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07
Hereditary ataxia with onset in adulthood v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07
Diagnostic testing for Isovaleric acidaemia v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Diagnostic testing for Isovaleric acidaemia v0.8 Achchuthan Shanmugasundram Panel status changed from internal to public
Hereditary ataxia with onset in adulthood v6.0 Eleanor Williams promoted panel to version 6.0
Diagnostic testing for Glutaric acidaemia I v1.1 Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2024-08-07
Diagnostic testing for Glutaric acidaemia I v1.0 Achchuthan Shanmugasundram promoted panel to version 1.0
Early onset or syndromic epilepsy v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07
Diagnostic testing for Glutaric acidaemia I v0.7 Achchuthan Shanmugasundram Panel status changed from internal to public
Early onset or syndromic epilepsy v6.0 Eleanor Williams promoted panel to version 6.0
Cystic kidney disease v6.1 Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07
Cystic kidney disease v6.0 Achchuthan Shanmugasundram promoted panel to version 6.0
Distal myopathies v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Structural eye disease v4.1 Achchuthan Shanmugasundram Panel version 4.0 has been signed off on 2024-08-07
Distal myopathies v5.0 Eleanor Williams promoted panel to version 5.0
Clefting v6.1 Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07
Structural eye disease v4.0 Achchuthan Shanmugasundram promoted panel to version 4.0
Clefting v6.0 Arina Puzriakova promoted panel to version 6.0
Mitochondrial disorders v7.1 Arina Puzriakova Panel version 7.0 has been signed off on 2024-08-07
Retinal disorders v6.1 Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07
Retinal disorders v6.0 Achchuthan Shanmugasundram promoted panel to version 6.0
Mitochondrial disorders v7.0 Arina Puzriakova promoted panel to version 7.0
Childhood onset hereditary spastic paraplegia v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07
Congenital disorders of glycosylation v6.1 Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07
Childhood onset hereditary spastic paraplegia v6.0 Eleanor Williams promoted panel to version 6.0
Congenital disorders of glycosylation v6.0 Arina Puzriakova promoted panel to version 6.0
Bilateral congenital or childhood onset cataracts v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07
Bilateral congenital or childhood onset cataracts v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
Primary immunodeficiency or monogenic inflammatory bowel disease v6.1 Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07
Primary immunodeficiency or monogenic inflammatory bowel disease v6.0 Arina Puzriakova promoted panel to version 6.0
Childhood onset dystonia, chorea or related movement disorder v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Neonatal diabetes v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07
Neonatal diabetes v5.0 Arina Puzriakova promoted panel to version 5.0
Childhood onset dystonia, chorea or related movement disorder v5.0 Eleanor Williams promoted panel to version 5.0
Intellectual disability v7.1 Arina Puzriakova Panel version 7.0 has been signed off on 2024-08-07
White matter disorders and cerebral calcification - narrow panel v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07
Paediatric disorders - additional genes v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07
White matter disorders and cerebral calcification - narrow panel v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
Paediatric disorders - additional genes v5.0 Arina Puzriakova promoted panel to version 5.0
Intellectual disability v7.0 Arina Puzriakova promoted panel to version 7.0
Ataxia and cerebellar anomalies - narrow panel v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07
Severe microcephaly v6.1 Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07
Ataxia and cerebellar anomalies - narrow panel v6.0 Eleanor Williams promoted panel to version 6.0
Severe microcephaly v6.0 Achchuthan Shanmugasundram promoted panel to version 6.0
Paediatric or syndromic cardiomyopathy v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07
Rhabdomyolysis and metabolic muscle disorders v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07
Arthrogryposis v7.1 Eleanor Williams Panel version 7.0 has been signed off on 2024-08-07
Paediatric or syndromic cardiomyopathy v5.0 Arina Puzriakova promoted panel to version 5.0
Arthrogryposis v7.0 Eleanor Williams promoted panel to version 7.0
NARP syndrome or maternally inherited Leigh syndrome v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2024-08-07
Rhabdomyolysis and metabolic muscle disorders v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
NARP syndrome or maternally inherited Leigh syndrome v2.0 Arina Puzriakova promoted panel to version 2.0
Sickle cell, thalassaemia and other haemoglobinopathies v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2024-08-07
Malformations of cortical development v6.1 Achchuthan Shanmugasundram Panel version 6.0 has been signed off on 2024-08-07
Sickle cell, thalassaemia and other haemoglobinopathies v2.0 Arina Puzriakova promoted panel to version 2.0
Malformations of cortical development v6.0 Achchuthan Shanmugasundram promoted panel to version 6.0
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v2.1 Arina Puzriakova Panel version 2.0 has been signed off on 2024-08-07
Adult onset neurodegenerative disorder v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v2.0 Arina Puzriakova promoted panel to version 2.0
Adult onset neurodegenerative disorder v6.0 Eleanor Williams promoted panel to version 6.0
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2024-08-07
Hydrocephalus v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07
Inherited phaeochromocytoma and paraganglioma excluding NF1 v3.0 Arina Puzriakova promoted panel to version 3.0
Hydrocephalus v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
Inherited polyposis and early onset colorectal cancer - germline testing v3.1 Arina Puzriakova Panel version 3.0 has been signed off on 2024-08-07
Adult onset leukodystrophy v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Inherited polyposis and early onset colorectal cancer - germline testing v3.0 Arina Puzriakova promoted panel to version 3.0
Adult onset leukodystrophy v5.0 Eleanor Williams promoted panel to version 5.0
Likely inborn error of metabolism v6.1 Arina Puzriakova Panel version 6.0 has been signed off on 2024-08-07
Unexplained young onset end-stage renal disease v5.1 Arina Puzriakova Panel version 5.0 has been signed off on 2024-08-07
Unexplained young onset end-stage renal disease v5.0 Arina Puzriakova promoted panel to version 5.0
Adult onset hereditary spastic paraplegia v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Likely inborn error of metabolism v6.0 Arina Puzriakova promoted panel to version 6.0
Adult onset hereditary spastic paraplegia v5.0 Eleanor Williams promoted panel to version 5.0
Adult onset dystonia, chorea or related movement disorder v4.1 Eleanor Williams Panel version 4.0 has been signed off on 2024-08-07
Adult onset dystonia, chorea or related movement disorder v4.0 Eleanor Williams promoted panel to version 4.0
Skeletal ciliopathies v5.1 Eleanor Williams Panel version 5.0 has been signed off on 2024-08-07
Skeletal ciliopathies v5.0 Eleanor Williams promoted panel to version 5.0
Holoprosencephaly v5.1 Achchuthan Shanmugasundram Panel version 5.0 has been signed off on 2024-08-07
Holoprosencephaly v5.0 Achchuthan Shanmugasundram promoted panel to version 5.0
Proteinuric renal disease v4.14 Arina Puzriakova Panel version 4.13 has been signed off on 2024-08-07
Limb disorders v6.1 Eleanor Williams Panel version 6.0 has been signed off on 2024-08-07
Limb disorders v6.0 Eleanor Williams promoted panel to version 6.0
Monogenic short stature v0.190 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.7 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Diagnostic testing for Isovaleric acidaemia v0.7 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Diagnostic testing for Glutaric acidaemia I v0.6 Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off
Likely inborn error of metabolism v5.26 Achchuthan Shanmugasundram List of related panels changed from Likely inborn error of metabolism - targeted testing not possible; Likely inborn error of metabolism; Inborn errors of metabolism; R98 to Likely inborn error of metabolism - targeted testing not possible; Inborn errors of metabolism; R98
Proteinuric renal disease v4.13 Arina Puzriakova Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Likely inborn error of metabolism v5.25 Arina Puzriakova Panel name changed from Likely inborn error of metabolism - targeted testing not possible to Likely inborn error of metabolism
Monogenic short stature v0.189 LIG4 Achchuthan Shanmugasundram Phenotypes for gene: LIG4 were changed from microcephaly, growth retardation, immunodeficiency, developmental delay to LIG4 syndrome, OMIM:606593; microcephaly, growth retardation, immunodeficiency, developmental delay
Monogenic short stature v0.188 PCNT Achchuthan Shanmugasundram Phenotypes for gene: PCNT were changed from MOPDII; Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Monogenic short stature v0.187 RNU4ATAC Achchuthan Shanmugasundram Phenotypes for gene: RNU4ATAC were changed from MOPD I to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Monogenic short stature v0.186 XRCC4 Achchuthan Shanmugasundram Phenotypes for gene: XRCC4 were changed from short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
Monogenic short stature v0.185 ATRIP Achchuthan Shanmugasundram Phenotypes for gene: ATRIP were changed from microcephaly, micrognathia, small ear lobes, dental crowding to Microcephalic primordial dwarfism; Microcephaly, micrognathia, small ear lobes, dental crowding
Monogenic short stature v0.184 CDC6 Achchuthan Shanmugasundram Phenotypes for gene: CDC6 were changed from ?Meier-Gorlin syndrome 5, 613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia to Meier-Gorlin syndrome 5, OMIM:613805; patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia
Monogenic short stature v0.183 GLI3 Achchuthan Shanmugasundram Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510
Monogenic short stature v0.182 SLF2 Achchuthan Shanmugasundram changed review comment from: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature; to: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Intellectual disability v6.77 PCBP2 Zornitza Stark gene: PCBP2 was added
gene: PCBP2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: PCBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PCBP2 were set to 38965372
Phenotypes for gene: PCBP2 were set to neurodevelopmental disorder MONDO:0700092, PCBP2-related
Review for gene: PCBP2 was set to GREEN
Added comment: Three individuals reported with de novo variants and DD/ASD.
Sources: Literature
Intellectual disability v6.77 RBBP5 Zornitza Stark gene: RBBP5 was added
gene: RBBP5 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: RBBP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBBP5 were set to 39036895
Phenotypes for gene: RBBP5 were set to neurodevelopmental disorder MONDO:0700092, RBBP5-related
Review for gene: RBBP5 was set to GREEN
Added comment: Five individuals reported, four of whom had de novo variants. Four had DD/ID; other more variable features included short stature, microcephaly, SNHL, seizures and hypotonia.
Sources: Literature
Intellectual disability v6.77 HDAC3 Zornitza Stark gene: HDAC3 was added
gene: HDAC3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HDAC3 were set to 39047730
Phenotypes for gene: HDAC3 were set to Neurodevelopmental disorder, MONDO:0700092, HDAC3-related
Added comment: Six individuals with de novo missense variants in this gene and variable NDD phenotypes, including ID, seizures. Supportive functional data.
Sources: Literature
Intellectual disability v6.77 SRPK3 Zornitza Stark gene: SRPK3 was added
gene: SRPK3 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPK3 were set to 39073169
Phenotypes for gene: SRPK3 were set to Neurodevelopmental disorder, MONDO:0700092, SRPK3-related
Review for gene: SRPK3 was set to GREEN
Added comment: PMID 39073169: 9 individuals from 5 unrelated families reported with 4 missense and 1 putative truncating variant and a neurodevelopmental phenotype. The 8 patients ascertained postnatally shared common clinical features including intellectual disability, agenesis of the corpus callosum, abnormal eye movement, and ataxia. A ninth case, ascertained prenatally, had a complex structural brain phenotype. Supportive animal model data (mouse and zebrafish).
Sources: Literature
White matter disorders and cerebral calcification - narrow panel v4.4 RNU7-1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNU7-1.
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence)
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence)
Neurological ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v0.182 Achchuthan Shanmugasundram Panel status changed from public to internal
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.6 Achchuthan Shanmugasundram Panel status changed from public to internal
Diagnostic testing for Glutaric acidaemia I v0.5 Achchuthan Shanmugasundram Panel status changed from public to internal
Diagnostic testing for Isovaleric acidaemia v0.6 Achchuthan Shanmugasundram Panel status changed from public to internal
Diagnostic testing for Isovaleric acidaemia v0.5 Achchuthan Shanmugasundram Panel status changed from internal to public
Diagnostic testing for Glutaric acidaemia I v0.4 Achchuthan Shanmugasundram Panel status changed from internal to public
Monogenic short stature v0.181 Achchuthan Shanmugasundram Panel status changed from internal to public
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.5 Achchuthan Shanmugasundram Panel status changed from internal to public
Adult onset hereditary spastic paraplegia v4.6 BICD2 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: BICD2.
Tag Q3_24_NHS_review tag was added to gene: BICD2.
Adult onset hereditary spastic paraplegia v4.6 BICD2 Sarah Leigh Publications for gene: BICD2 were set to 23664116; 23664120; 25497877; 30536747; 24482476
Adult onset hereditary spastic paraplegia v4.5 BICD2 Sarah Leigh reviewed gene: BICD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset hereditary spastic paraplegia v4.5 BICD2 Sarah Leigh Classified gene: BICD2 as Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v4.5 BICD2 Sarah Leigh Gene: bicd2 has been classified as Amber List (Moderate Evidence).
Adult onset hereditary spastic paraplegia v4.4 BICD2 Sarah Leigh Entity copied from Hereditary neuropathy v1.482
Adult onset hereditary spastic paraplegia v4.4 BICD2 Sarah Leigh gene: BICD2 was added
gene: BICD2 was added to Adult onset hereditary spastic paraplegia. Sources: NHS GMS,Expert Review Green,South West GLH,Expert list,London North GLH
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICD2 were set to 23664116; 23664120; 25497877; 30536747; 24482476
Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Penetrance for gene: BICD2 were set to Complete
Hereditary neuropathy v1.482 BICD2 Sarah Leigh Publications for gene: BICD2 were set to 23664116; 23664120; 25497877
Hereditary neuropathy v1.481 BICD2 Sarah Leigh Publications for gene: BICD2 were set to 23664116
Likely inborn error of metabolism v5.24 MT-RNR2 Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR2.
Ectodermal dysplasia v3.29 RMRP Sarah Leigh Tag locus-type-rna-misc was removed from gene: RMRP.
Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Familial Hirschsprung Disease v1.10 RMRP Sarah Leigh commented on gene: RMRP
Intellectual disability v6.77 RMRP Sarah Leigh commented on gene: RMRP
DDG2P v4.6 RMRP Sarah Leigh commented on gene: RMRP
Fetal anomalies v4.33 RMRP Sarah Leigh commented on gene: RMRP
Cytopenia - NOT Fanconi anaemia v3.34 RMRP Sarah Leigh commented on gene: RMRP
Skeletal dysplasia v5.11 RMRP Sarah Leigh commented on gene: RMRP: HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660.
Haematological malignancies cancer susceptibility v4.5 RMRP Sarah Leigh commented on gene: RMRP
Cytopenias and congenital anaemias v1.118 RMRP Sarah Leigh commented on gene: RMRP
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 RMRP Sarah Leigh commented on gene: RMRP
Ectodermal dysplasia without a known gene mutation v1.28 RMRP Sarah Leigh commented on gene: RMRP: HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660.
Ectodermal dysplasia v3.29 RMRP Sarah Leigh commented on gene: RMRP: HGNC classifies this gene as locus-type-rna-misc. One of the alternative titles for this gene is lncRNA RMRP in OMIM:157660.
COVID-19 research v1.142 RMRP Sarah Leigh commented on gene: RMRP
Haematological malignancies for rare disease v1.18 RMRP Sarah Leigh commented on gene: RMRP
Intellectual disability v6.77 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Ectodermal dysplasia v3.29 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding was removed from gene: RMRP.
Tag locus-type-rna-misc tag was added to gene: RMRP.
Intellectual disability v6.77 XIST Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: XIST.
Fetal anomalies v4.33 H19 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: H19.
Adult onset leukodystrophy v4.7 RNF216 Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685; 26250479; 25841028
Adult onset leukodystrophy v4.6 RNF216 Sarah Leigh Publications for gene: RNF216 were set to 27159321; 25527826; 28334938; 20301621; 24357685; 26250479
Adult onset leukodystrophy v4.5 COL4A2 Sarah Leigh Added comment: Comment on publications: https://link.springer.com/article/10.1007/s00415-016-8280-3 is PMID: 27624120
Adult onset leukodystrophy v4.5 COL4A2 Sarah Leigh Publications for gene: COL4A2 were set to 27159321; 25527826; 28334938; 20301621; 24357685
Adult onset leukodystrophy v4.4 AARS Sarah Leigh Added comment: Comment on publications: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10142409/ is PMID: 37106376. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880494/ is PMID: 31775912
Adult onset leukodystrophy v4.4 AARS Sarah Leigh Publications for gene: AARS were set to 27159321; 25527826; 28334938; 20301621; 24357685
Fetal anomalies v4.33 GATA1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: GATA1.
Tag Q3_24_expert_review tag was added to gene: GATA1.
Fetal anomalies v4.33 GATA1 Sarah Leigh changed review comment from: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337).; to: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337). This gene could be relevant to the fetal anomalies panel.
Fetal anomalies v4.33 GATA1 Sarah Leigh Classified gene: GATA1 as Amber List (moderate evidence)
Fetal anomalies v4.33 GATA1 Sarah Leigh Gene: gata1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.32 GATA1 Sarah Leigh Entity copied from Fetal hydrops v1.86
Fetal anomalies v4.32 GATA1 Sarah Leigh gene: GATA1 was added
gene: GATA1 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180; 33082562; 20301538; 30914438; 29949202; 35580337
Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
DDG2P v4.6 RNU12 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Ichthyosis and erythrokeratoderma v3.28 MT-TS1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
Palmoplantar keratoderma and erythrokeratodermas v1.31 MT-TS1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
Intellectual disability v6.77 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Fetal anomalies v4.31 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Arthrogryposis v6.7 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Congenital myopathy v4.38 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
DDG2P v4.6 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Early onset or syndromic epilepsy v5.30 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Hypertrophic cardiomyopathy v4.13 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Monogenic hearing loss v4.50 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Fetal hydrops v1.86 MT-TE Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE.
Hereditary neuropathy or pain disorder v4.11 MT-RNR1 Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1.
Structural eye disease v3.79 MIR184 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184.
DDG2P v4.6 MIR184 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184.
Corneal dystrophy v3.10 MIR184 Sarah Leigh Tag locus-type-rna-micro tag was added to gene: MIR184.
DDG2P v4.6 MIR17HG Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: MIR17HG.
DDG2P v4.6 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Fetal anomalies v4.31 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Cytopenia - NOT Fanconi anaemia v3.34 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Skeletal dysplasia v5.11 RMRP Sarah Leigh Tag locus-type-rna-misc was removed from gene: RMRP.
Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Haematological malignancies cancer susceptibility v4.5 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Cytopenias and congenital anaemias v1.118 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 RMRP Sarah Leigh Tag locus-type-rna-ribosomal was removed from gene: RMRP.
Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Ectodermal dysplasia without a known gene mutation v1.28 RMRP Sarah Leigh Tag locus-type-rna-misc was removed from gene: RMRP.
Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Ectodermal dysplasia v3.29 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
COVID-19 research v1.142 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Haematological malignancies for rare disease v1.18 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Familial Hirschsprung Disease v1.10 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 TRAC Sarah Leigh Tag locus-type-T-cell-receptor-gene tag was added to gene: TRAC.
COVID-19 research v1.142 TRAC Sarah Leigh Tag locus-type-T-cell-receptor-gene tag was added to gene: TRAC.
Pulmonary fibrosis familial v1.7 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
DDG2P v4.6 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Cytopenia - NOT Fanconi anaemia v3.34 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Haematological malignancies cancer susceptibility v4.5 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Adult solid tumours cancer susceptibility v2.29 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Cytopenias and congenital anaemias v1.118 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Cytopenias and congenital anaemias v1.118 TERC Sarah Leigh Tag locus-type-rna-misc was removed from gene: TERC.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 TERC Sarah Leigh Tag locus-type-rna-misc was removed from gene: TERC.
Inherited predisposition to acute myeloid leukaemia (AML) v3.3 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Polycystic liver disease v1.31 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Ductal plate malformation v1.29 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Pigmentary skin disorders v3.12 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Childhood solid tumours v4.18 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Familial pulmonary fibrosis v1.31 TERC Sarah Leigh Tag locus-type-rna-misc was removed from gene: TERC.
Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
COVID-19 research v1.142 TERC Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Early onset or syndromic epilepsy v5.30 SNORD118 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
DDG2P v4.6 SNORD118 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
Fetal anomalies v4.31 SNORD118 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
Adult onset leukodystrophy v4.3 SNORD118 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 SNORA31 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORA31.
COVID-19 research v1.142 SNORA31 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORA31.
Retinal disorders v5.15 RNU4ATAC Sarah Leigh Tag locus-type-small-nucleolar was removed from gene: RNU4ATAC.
Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Childhood onset dystonia, chorea or related movement disorder v4.10 RNU7-1 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
Intellectual disability v6.77 RNU7-1 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
Childhood onset hereditary spastic paraplegia v5.3 RNU7-1 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 RNU7-1 Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
White matter disorders and cerebral calcification - narrow panel v4.4 RNU7-1 Sarah Leigh Tag gene-checked was removed from gene: RNU7-1.
Tag locus-type-rna-small-nuclear tag was added to gene: RNU7-1.
Retinal disorders v5.15 RNU4ATAC Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: RNU4ATAC.
Early onset or syndromic epilepsy v5.30 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
DDG2P v4.6 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Fetal anomalies v4.31 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Cytopenia - NOT Fanconi anaemia v3.34 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Bleeding and platelet disorders v3.10 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Limb disorders v5.7 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
COVID-19 research v1.142 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 IGHM Sarah Leigh Tag locus-type-immunoglobulin-gene tag was added to gene: IGHM.
COVID-19 research v1.142 IGHM Sarah Leigh Tag locus-type-immunoglobulin-gene tag was added to gene: IGHM.
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Classified gene: MSL2 as Amber List (moderate evidence)
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Nour Elkhateeb, there is sufficient evidence available for the promotion of this gene to green rating on the next GMS update.
Intellectual disability v6.77 MSL2 Achchuthan Shanmugasundram Gene: msl2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Phenotypes for gene: MSL2 were changed from Developmental disorders; autism to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Publications for gene: MSL2 were set to 31332282; 33057194; 38702431; 38815585
Intellectual disability v6.76 MSL2 Achchuthan Shanmugasundram Publications for gene: MSL2 were set to 31332282; 33057194
Intellectual disability v6.75 MSL2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: MSL2.
Intellectual disability v6.75 MSL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MSL2.
Intellectual disability v6.75 MSL2 Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38702431, 38815585; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.75 MAPKAPK5 Achchuthan Shanmugasundram Classified gene: MAPKAPK5 as Amber List (moderate evidence)
Intellectual disability v6.75 MAPKAPK5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (6 unrelated families) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.75 MAPKAPK5 Achchuthan Shanmugasundram Gene: mapkapk5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.74 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5.
Intellectual disability v6.74 MAPKAPK5 Achchuthan Shanmugasundram Phenotypes for gene: MAPKAPK5 were changed from Neurocardiofaciodigital syndrome, OMIM:619869 to Neurocardiofaciodigital syndrome, OMIM:619869
Intellectual disability v6.73 MAPKAPK5 Achchuthan Shanmugasundram Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism to Neurocardiofaciodigital syndrome, OMIM:619869
Intellectual disability v6.72 MAPKAPK5 Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026
Intellectual disability v6.71 MAPKAPK5 Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35575217, 36581449; Phenotypes: Neurocardiofaciodigital syndrome, OMIM:619869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v5.7 MAPKAPK5 Achchuthan Shanmugasundram changed review comment from: PMID:35575217 reported a 19-month-old boy of Italian descent with neurocardiofaciodigital syndrome (NCFD). He had global developmental delay and his digit abnormalities include short fingers, broad big toes and marked toenail hypoplasia/dysplasia. He was identified with a pathogenic homozygous nonsense variant in MAPKAPK5 gene (p.Arg394Ter).

PMID:36581449 reported three unrelated individuals (one each from Pakistani, Palestinian - Arab and Egyptian descent) with NCFD. All of them had varying degrees of developmental delay and intellectual disability (one each with profound, severe and moderate ID), and digit abnormalities. They were all identified with homozygous MAPKAPK5 variant (p.Leu224Cysfs*4, p.Gln437Ter and p.Gly107Val ).

This gene has been associated with relevant phenotypes in OMIM (MIM #619869) and Gene2Phenotype (with 'strong' rating on the DD panel); to: PMID:35575217 reported a 19-month-old boy of Italian descent with neurocardiofaciodigital syndrome (NCFD). He had global developmental delay and his digit abnormalities include short fingers, broad big toes and marked toenail hypoplasia/dysplasia. He was identified with a pathogenic homozygous nonsense variant in MAPKAPK5 gene (p.Arg394Ter).

PMID:36581449 reported three unrelated individuals (one each from Pakistani, Palestinian - Arab and Egyptian descent) with NCFD. All of them had varying degrees of developmental delay and intellectual disability (one each with profound, severe and moderate ID), and digit abnormalities. They were all identified with homozygous MAPKAPK5 variant (p.Leu224Cysfs*4, p.Gln437Ter and p.Gly107Val ).

This gene has been associated with relevant phenotypes in OMIM (MIM #619869) and Gene2Phenotype (with 'strong' rating on the DD panel).
Limb disorders v5.7 MAPKAPK5 Achchuthan Shanmugasundram Classified gene: MAPKAPK5 as Amber List (moderate evidence)
Limb disorders v5.7 MAPKAPK5 Achchuthan Shanmugasundram Added comment: Comment on list classification: As there is sufficient evidence available (6 unrelated families), this gene can be promoted to green rating in the next GMS update.
Limb disorders v5.7 MAPKAPK5 Achchuthan Shanmugasundram Gene: mapkapk5 has been classified as Amber List (Moderate Evidence).
Limb disorders v5.6 MAPKAPK5 Achchuthan Shanmugasundram Phenotypes for gene: MAPKAPK5 were changed from Developmental delay, variable brain anomalies, congenital heart defects, dysmorphism; Synpolydactyly to Neurocardiofaciodigital syndrome, OMIM:619869
Limb disorders v5.5 MAPKAPK5 Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026; 35575217; 36581449
Limb disorders v5.5 MAPKAPK5 Achchuthan Shanmugasundram Publications for gene: MAPKAPK5 were set to 33442026
Limb disorders v5.4 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5.
Limb disorders v5.4 MAPKAPK5 Achchuthan Shanmugasundram reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: None; Publications: 35575217, 36581449; Phenotypes: Neurocardiofaciodigital syndrome, OMIM:619869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v4.13 KLHL24 Nour Elkhateeb gene: KLHL24 was added
gene: KLHL24 was added to Hypertrophic cardiomyopathy. Sources: Literature
Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KLHL24 were set to 30715372; 32870709; 36672924
Phenotypes for gene: KLHL24 were set to Hypertrophic cardiomyopathy; Heart failure; arrhythmias; Risk of sudden death
Review for gene: KLHL24 was set to GREEN
Added comment: KLHL24 variants have been reported in relation to autosomal recessive hypertrophic cardiomyopathy in several individuals from four families in three publications (PMIDs: 30715372, 32870709, 36672924) with variants including missense and nonsense variants. The mechanism of pathogenicity is reported to be loss of function. This gene-disease relationship is also supported by expression data (PMID: 23715323).
Sources: Literature
Hereditary neuropathy v1.480 LRP12 Alexander Rossor STR: LRP12 was added
STR: LRP12 was added to Hereditary neuropathy. Sources: Literature
Mode of inheritance for STR: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: LRP12 were set to 39013564
Phenotypes for STR: LRP12 were set to Motor axonal neuropathy
Review for STR: LRP12 was set to GREEN
Added comment: Sources: Literature
Hereditary neuropathy v1.480 NDC1 Alexander Rossor gene: NDC1 was added
gene: NDC1 was added to Hereditary neuropathy. Sources: Literature
Mode of inheritance for gene: NDC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDC1 were set to 39003500
Phenotypes for gene: NDC1 were set to demyelinating neuropathy; alacrima; achalasia
Penetrance for gene: NDC1 were set to Complete
Review for gene: NDC1 was set to GREEN
Added comment: 7 individuals from 4 unrelated consanguinioius families
Sources: Literature
Hereditary neuropathy v1.480 LRP12 Alexander Rossor gene: LRP12 was added
gene: LRP12 was added to Hereditary neuropathy. Sources: Literature
Mode of inheritance for gene: LRP12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP12 were set to 39013564
Phenotypes for gene: LRP12 were set to Motor axonal neuropathy
Review for gene: LRP12 was set to GREEN
Added comment: Trinucleotide repeat expansion, 44 patients with neuropathy in Japanese cohort
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v5.8 LNPK Achchuthan Shanmugasundram Classified gene: LNPK as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v5.8 LNPK Achchuthan Shanmugasundram Gene: lnpk has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v5.7 LNPK Achchuthan Shanmugasundram gene: LNPK was added
gene: LNPK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to 30032983; 35599435
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Review for gene: LNPK was set to AMBER
Added comment: PMID:30032983 reported three individuals from two different consanguineous families with homozygous LNPK variants. The only individual from the second family with p.Arg251Ter had ataxia and cerebellar atrophy, while one of two individuals from family 1 (with p.Pro243LeufsTer2 variant) had mild vermian hypoplasia and wide-based gait.

PMID:35599435 reported a girl born to consanguineous healthy parent of Turkish descent with a novel LNPK variant (c.770delA/ p.D257fs*31). She presented with ataxia, psychomotor delay, cerebellar dysfunction and myoclonic seizures.
Sources: Literature
Early onset or syndromic epilepsy v5.30 LNPK Achchuthan Shanmugasundram Classified gene: LNPK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.30 LNPK Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with epilepsy. Hence, this gene can be promoted to green rating in the next GMS update.
Early onset or syndromic epilepsy v5.30 LNPK Achchuthan Shanmugasundram Gene: lnpk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.29 LNPK Achchuthan Shanmugasundram Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Early onset or syndromic epilepsy v5.29 LNPK Achchuthan Shanmugasundram Phenotypes for gene: LNPK were changed from Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum 618090 to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Early onset or syndromic epilepsy v5.29 LNPK Achchuthan Shanmugasundram Publications for gene: LNPK were set to 30032983
Early onset or syndromic epilepsy v5.28 LNPK Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LNPK.
Early onset or syndromic epilepsy v5.28 LNPK Achchuthan Shanmugasundram reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35599435; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v4.19 LEMD2 Achchuthan Shanmugasundram Classified gene: LEMD2 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v4.19 LEMD2 Achchuthan Shanmugasundram Gene: lemd2 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v4.18 LEMD2 Achchuthan Shanmugasundram gene: LEMD2 was added
gene: LEMD2 was added to Bilateral congenital or childhood onset cataracts. Sources: Literature
founder-effect tags were added to gene: LEMD2.
Mode of inheritance for gene: LEMD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LEMD2 were set to 26788539; 31061923
Phenotypes for gene: LEMD2 were set to Cataract 46, juvenile-onset, OMIM:212500
Review for gene: LEMD2 was set to AMBER
Added comment: PMID:2678853 reported the identification of the homozygous missense LEMD2 variant (p.Thr38Gly) in 17 members of four unrelated Lehrerleut Hutterite kindreds with juvenile cataract. The age of cataract presentation was mostly between 3 and 7 years with the exception of an individual presenting at the age of 26 years. In two of the pedigrees, seven individuals died of sudden, apparently arrhythmogenic events in the third through fifth decades; six of those patients also had juvenile-onset cataracts.

PMID:31061923 reported 19 members from two extended Hutterite kindreds that had juvenile cataract with or without arrhythmic cardiomyopathy. One of these kindreds were reported previously in PMID:2678853. A homozygous p.Leu13Arg variant was identified in the other kindred that was not previously reported in literature. The homozygous variant was also identified in one apparently unaffected carrier, a 13-year-old girl without cataract who was believed to be presymptomatic.
Sources: Literature
Osteogenesis imperfecta v4.7 KIF5B Achchuthan Shanmugasundram Classified gene: KIF5B as Amber List (moderate evidence)
Osteogenesis imperfecta v4.7 KIF5B Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Osteogenesis imperfecta v4.7 KIF5B Achchuthan Shanmugasundram Gene: kif5b has been classified as Amber List (Moderate Evidence).
Osteogenesis imperfecta v4.6 KIF5B Achchuthan Shanmugasundram gene: KIF5B was added
gene: KIF5B was added to Osteogenesis imperfecta. Sources: Literature
Q3_24_promote_green tags were added to gene: KIF5B.
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 37934770
Phenotypes for gene: KIF5B were set to osteogenesis imperfecta, MONDO:0019019
Review for gene: KIF5B was set to GREEN
Added comment: PMID:37934770 reported the identification of three distinct de novo heterozygous KIF5B variants (p.Thr87Ile, p.Gly90Ala and p.Thr195Lys) in four unrelated individuals with osteogenesis imperfecta (OI). All these variants are present within the highly conserved kinesis motor domain. Functional studies in C. elegans, human cell lines and bone biopsy show impaired protein function and suggest dominant negative mechanism for variants. It is not clear what distinguishes OI phenotypes from other phenotypes for this gene reported in PMIDs: 35342932 and 36018820.
Sources: Literature
Skeletal dysplasia v5.11 KIF5B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIF5B.
Skeletal dysplasia v5.11 KIF5B Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.71 IREB2 Achchuthan Shanmugasundram Classified gene: IREB2 as Amber List (moderate evidence)
Intellectual disability v6.71 IREB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.71 IREB2 Achchuthan Shanmugasundram Gene: ireb2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.70 IREB2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IREB2.
Intellectual disability v6.70 IREB2 Achchuthan Shanmugasundram Phenotypes for gene: IREB2 were changed from Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, MIM#618451 to Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451
Intellectual disability v6.69 IREB2 Achchuthan Shanmugasundram Publications for gene: IREB2 were set to 11175792; 30915432; 31243445; 35602653
Intellectual disability v6.69 IREB2 Achchuthan Shanmugasundram Publications for gene: IREB2 were set to 30915432; 31243445; 11175792
Intellectual disability v6.68 IREB2 Achchuthan Shanmugasundram changed review comment from: PMID:35602653 reported a 7-year-old male patient with compound heterozygous missense variants in IREB2 gene and with clinical manifestations including a profound global neurodevelopmental delay and dystonia.

This gene has been associated with relevant phenotypes in OMIM (MIM #618451) and Gene2Phenotype (with 'moderate' rating on the ID panel).; to: PMID:35602653 reported a 7-year-old male patient with compound heterozygous missense variants in IREB2 gene and with clinical manifestations including a profound global neurodevelopmental delay and dystonia.

This gene has been associated with relevant phenotypes in OMIM (MIM #618451) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Intellectual disability v6.68 IREB2 Achchuthan Shanmugasundram reviewed gene: IREB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35602653; Phenotypes: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia, OMIM:618451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Deleted their comment
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence)
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic GLIS2 variants and with nephronophthisis (MIM #611498). There is also functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence)
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with biallelic GLIS2 variants and with nephronophthisis (MIM #611498). There is also functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Renal ciliopathies v3.8 GLIS2 Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence).
Renal ciliopathies v3.7 GLIS2 Achchuthan Shanmugasundram Phenotypes for gene: GLIS2 were changed from Nephronophthisis; NPHP; Nephronophthisis 7, 611498 to Nephronophthisis 7, OMIM:611498
Renal ciliopathies v3.7 GLIS2 Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to 17618285; 18227149; 23559409; 26374130; 31676329
Renal ciliopathies v3.7 GLIS2 Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to 26374130; 23559409; 17618285; 18227149
Renal ciliopathies v3.6 GLIS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GLIS2.
Unexplained young onset end-stage renal disease v4.11 GLIS2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are three unrelated cases with biallelic GLIS2 variants and with childhood-onset end stage renal disease. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are three unrelated cases with biallelic GLIS2 variants and with childhood-onset end stage renal disease. In addition, there is functional evidence and mouse model available in support of the disease association. Hence, this gene can be promoted to green rating in the next GMS update.
Unexplained young onset end-stage renal disease v4.11 GLIS2 Achchuthan Shanmugasundram Classified gene: GLIS2 as Amber List (moderate evidence)
Unexplained young onset end-stage renal disease v4.11 GLIS2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases with biallelic GLIS2 variants and with childhood-onset end stage renal disease. Hence, this gene can be promoted to green rating in the next GMS update.
Unexplained young onset end-stage renal disease v4.11 GLIS2 Achchuthan Shanmugasundram Gene: glis2 has been classified as Amber List (Moderate Evidence).
Unexplained young onset end-stage renal disease v4.10 GLIS2 Achchuthan Shanmugasundram Phenotypes for gene: GLIS2 were changed from Ciliopathy genes associated with cystic kidney disease to Nephronophthisis 7, OMIM:611498
Unexplained young onset end-stage renal disease v4.9 GLIS2 Achchuthan Shanmugasundram Publications for gene: GLIS2 were set to
Unexplained young onset end-stage renal disease v4.8 GLIS2 Achchuthan Shanmugasundram Mode of inheritance for gene: GLIS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.7 GLIS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GLIS2.
Unexplained young onset end-stage renal disease v4.7 GLIS2 Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17618285, 23559409, 26374130, 31676329; Phenotypes: Nephronophthisis 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Renal ciliopathies v3.6 GLIS2 Achchuthan Shanmugasundram changed review comment from: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2.

PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2.

PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age.; to: PMID:17618285 reported the identification of a homozygous splice site GLIS2 variant in three members of a consanguineous Canadian Oji-Cree family and they presented with nephronophthisis. All developed end-stage kidney disease by age 8 years and underwent renal transplantation. Experimental studies in Glis2 mutant mouse model showed severe renal atrophy and fibrosis starting at 8 weeks of age. Differential gene expression studies on Glis2 mutant kidneys demonstrate that genes promoting epithelial-to-mesenchymal transition and fibrosis are upregulated in the absence of Glis2.

PMID:23559409 reported the identification of a homozygous GLIS2 variant (p.Cys175Arg) in a patient of Turkish descent that was ascertained from a larger cohort of 1,056 individuals with nephronophthisis-related disorders who underwent genetic analysis. This patient had end stage renal disease at 15 years of age. PMID:26374130 provided functional evidence for the reported C175R variant, which showed that affects both localization and function of GLIS2.

PMID:31676329 reported the identification of a novel homozygous in-frame deletion (p.H188_Y192del) of GLIS2 in a female from a consanguineous family. She presented at 9 years of age with echogenic kidneys with loss of cortico-medullary differentiation and progressive chronic kidney disease reaching kidney failure by 10 years of age.
Renal ciliopathies v3.6 GLIS2 Achchuthan Shanmugasundram reviewed gene: GLIS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17618285, 23559409, 26374130, 31676329; Phenotypes: Nephronophthisis 7, OMIM:611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: here are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: There are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram Classified gene: GEMIN4 as Amber List (moderate evidence)
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram Added comment: Comment on list classification: here are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.
Bilateral congenital or childhood onset cataracts v4.17 GEMIN4 Achchuthan Shanmugasundram Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Bilateral congenital or childhood onset cataracts v4.16 GEMIN4 Achchuthan Shanmugasundram Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Bilateral congenital or childhood onset cataracts v4.15 GEMIN4 Achchuthan Shanmugasundram Publications for gene: GEMIN4 were set to 27878435; 25558065; 30237576
Bilateral congenital or childhood onset cataracts v4.14 GEMIN4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GEMIN4.
Bilateral congenital or childhood onset cataracts v4.14 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35052432, 35861185; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.68 GEMIN4 Achchuthan Shanmugasundram Classified gene: GEMIN4 as Amber List (moderate evidence)
Intellectual disability v6.68 GEMIN4 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are 12 unrelated families and three different GEMIN4 variants reported in the literature. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.68 GEMIN4 Achchuthan Shanmugasundram Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.67 GEMIN4 Achchuthan Shanmugasundram Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Intellectual disability v6.66 GEMIN4 Achchuthan Shanmugasundram Publications for gene: GEMIN4 were set to 25558065; 27878435
Intellectual disability v6.65 GEMIN4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GEMIN4.
Intellectual disability v6.65 GEMIN4 Achchuthan Shanmugasundram changed review comment from: PMID:35861185 provided a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 variants., of which five patients were previously reported. Only two missense homozygous pathogenic variants (p.Pro105Leu and p.Trp818Arg) were reported in these patients, which suggests founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations.

PMID:35052432 reported the identification of a novel homozygous variant (p.His147Arg) in two siblings from a consanguineous Saudi family. Both of them presented with global developmental delay, seizures, microcephaly and cataract.; to: PMID:35861185 provided a retrospective review of 16 patients from 11 unrelated Saudi consanguineous families with GEMIN4 variants., of which five patients were previously reported. Only two missense homozygous pathogenic variants (p.Pro105Leu and p.Trp818Arg) were reported in these patients, which suggests founder effect. All patients shared global developmental delay with variable ophthalmological, renal, and skeletal manifestations.

PMID:35052432 reported the identification of a novel homozygous variant (p.His147Arg) in two siblings from a consanguineous Saudi family. Both of them presented with global developmental delay, seizures, microcephaly and cataract.

This gene has been associated with relevant phenotypes in OMIM (MIM #617913) and Gene2Phenotype (with 'strong' rating on the DD panel).
Intellectual disability v6.65 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35052432, 35861185; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.14 GAS2L2 Achchuthan Shanmugasundram Classified gene: GAS2L2 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.14 GAS2L2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases and functional evidence available in support of the association of GAS2L2 with primary ciliary dyskinesia. Hence, this gene can be promoted to green rating in the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v3.14 GAS2L2 Achchuthan Shanmugasundram Gene: gas2l2 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.13 GAS2L2 Achchuthan Shanmugasundram Phenotypes for gene: GAS2L2 were changed from Primary ciliary dyskinesia to ?Ciliary dyskinesia, primary, 41, OMIM:618449
Respiratory ciliopathies including non-CF bronchiectasis v3.12 GAS2L2 Achchuthan Shanmugasundram Publications for gene: GAS2L2 were set to 30665704
Respiratory ciliopathies including non-CF bronchiectasis v3.11 GAS2L2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GAS2L2.
Respiratory ciliopathies including non-CF bronchiectasis v3.11 GAS2L2 Achchuthan Shanmugasundram changed review comment from: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia.; to: PMID:36104176 reported the identification of a novel homozygous GAS2L2 variant (c.182C>T/ p.Thr61Met) in two sisters of Japanese descent with primary ciliary dyskinesia.
Respiratory ciliopathies including non-CF bronchiectasis v3.11 GAS2L2 Achchuthan Shanmugasundram reviewed gene: GAS2L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 36104176; Phenotypes: ?Ciliary dyskinesia, primary, 41, OMIM:618449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.65 GABBR1 Achchuthan Shanmugasundram Classified gene: GABBR1 as Amber List (moderate evidence)
Intellectual disability v6.65 GABBR1 Achchuthan Shanmugasundram Gene: gabbr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.64 GABBR1 Achchuthan Shanmugasundram gene: GABBR1 was added
gene: GABBR1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: GABBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABBR1 were set to 36103875
Phenotypes for gene: GABBR1 were set to Neurodevelopmental disorder with language delay and variable cognitive abnormalities, OMIM:620502
Review for gene: GABBR1 was set to AMBER
Added comment: PMID:36103875 reported the identification of monoallelic de novo variants in four unrelated individuals presenting with motor and/or language delay, ranging from mild to severe, and in one case, epilepsy. Intellectual disability was present in two of four individuals, whereas ID was not documented in one patient.

This gene has been associated with relevant phenotypes in OMIM (MIM #620502) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Early onset or syndromic epilepsy v5.28 FZR1 Achchuthan Shanmugasundram Classified gene: FZR1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.28 FZR1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Early onset or syndromic epilepsy v5.28 FZR1 Achchuthan Shanmugasundram Gene: fzr1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.63 FZR1 Achchuthan Shanmugasundram Classified gene: FZR1 as Amber List (moderate evidence)
Intellectual disability v6.63 FZR1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.63 FZR1 Achchuthan Shanmugasundram Gene: fzr1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.27 FZR1 Achchuthan Shanmugasundram changed review comment from: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant.

PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia.

This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature; to: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant.

PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. There is functional evidence available for variants reported in this study.

This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature
Intellectual disability v6.62 FZR1 Achchuthan Shanmugasundram changed review comment from: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant.

PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia.

This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature; to: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant.

PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia. There is functional evidence available for variants reported in this study.

This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature
Early onset or syndromic epilepsy v5.27 FZR1 Achchuthan Shanmugasundram gene: FZR1 was added
gene: FZR1 was added to Early onset or syndromic epilepsy. Sources: Literature
Q3_24_promote_green tags were added to gene: FZR1.
Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZR1 were set to 31318984; 34788397
Phenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy 109, OMIM:620145
Review for gene: FZR1 was set to GREEN
Added comment: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant.

PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia.

This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature
Intellectual disability v6.62 FZR1 Achchuthan Shanmugasundram gene: FZR1 was added
gene: FZR1 was added to Intellectual disability. Sources: Literature
Q3_24_promote_green tags were added to gene: FZR1.
Mode of inheritance for gene: FZR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZR1 were set to 31318984; 34788397
Phenotypes for gene: FZR1 were set to Developmental and epileptic encephalopathy 109, OMIM:620145
Review for gene: FZR1 was set to GREEN
Added comment: PMID:31318984 reported the identification of a novel heterozygous missense FZR1 variant (c.560A>G/ p.Asp187Gly) in a 4-year-old boy, born from non-consanguineous Spanish parents, who presents with severe antenatal microcephaly, global developmental delay, and refractory epilepsy. There is some functional evidence available for this variant.

PMID:34788397 reported the identification of three de novo missense FZR1 variants (c.559G>A/ p.Asp187Asn, c.999C>G/ p.Asn333Lys & c.999C>A/ p.Asn333Lys) in three unrelated individuals from different descents (Turkish, Moroccan and Afghan) presenting with childhood-onset generalized epilepsy, intellectual disability, and mild ataxia.

This gene has been associated with relevant phenotypes in OMIM (MIM #620145) and Gene2Phenotype (with 'strong' rating on the DD panel).
Sources: Literature
Likely inborn error of metabolism v5.24 FUK Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518
Likely inborn error of metabolism v5.23 FUK Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence)
Likely inborn error of metabolism v5.23 FUK Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported and hence this gene can be promoted to green rating in the next GMS update.
Likely inborn error of metabolism v5.23 FUK Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v5.22 FUK Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK.
Likely inborn error of metabolism v5.22 FUK Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.26 FUK Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.26 FUK Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated patients reported with seizures and hence this gene can be promoted to green rating in the next GMS update.
Early onset or syndromic epilepsy v5.26 FUK Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.25 FUK Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518
Early onset or syndromic epilepsy v5.24 FUK Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK.
Early onset or syndromic epilepsy v5.24 FUK Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK.
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence)
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Added comment: Comment on list classification: There are five unrelated families reported and hence this gene can be promoted to green rating in the next GMS update.
Congenital disorders of glycosylation v5.8 FUK Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v5.7 FUK Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518
Congenital disorders of glycosylation v5.6 FUK Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.61 FUK Achchuthan Shanmugasundram Phenotypes for gene: FUK were changed from Seizures; Generalized hypotonia; Feeding difficulties; Intellectual disability; Global developmental delay; Congenital disorder of glycosylation with defective fucosylation 2, 618324 to Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324
Intellectual disability v6.60 FUK Achchuthan Shanmugasundram Classified gene: FUK as Amber List (moderate evidence)
Intellectual disability v6.60 FUK Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families reported with ID (severe in three families and mild in one). Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.60 FUK Achchuthan Shanmugasundram Gene: fuk has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.59 FUK Achchuthan Shanmugasundram Publications for gene: FUK were set to 30503518
Intellectual disability v6.58 FUK Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FUK.
Intellectual disability v6.58 FUK Achchuthan Shanmugasundram reviewed gene: FUK: Rating: GREEN; Mode of pathogenicity: None; Publications: 35718084, 36426412; Phenotypes: Congenital disorder of glycosylation with defective fucosylation 2, OMIM:618324; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly v5.17 FRA10AC1 Achchuthan Shanmugasundram Classified gene: FRA10AC1 as Amber List (moderate evidence)
Severe microcephaly v5.17 FRA10AC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated families) for the promotion of this gene to green rating in the next GMS update.
Severe microcephaly v5.17 FRA10AC1 Achchuthan Shanmugasundram Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v5.16 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1.
Severe microcephaly v5.16 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to Severe microcephaly. Sources: Literature
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Review for gene: FRA10AC1 was set to GREEN
Added comment: PMID:34694367 reported the identification of homozygous FRA10AC1 variants in five individuals from three unrelated consanguineous Arabic families with a neurodevelopmental disorder. The two unrelated patients from two different families with loss-of-function variants (g.4656_7575del and c.561_562insTTTA/ p.Ser188Phefs*6) presented with developmental delay, profound intellectual disability (ID), and no speech, while three siblings from the third family with the c.494_496delAAG (p.Glu165del) variant had borderline to mild ID. All five individuals had microcephaly and the Z-score of OFC was <-3 for four individuals from three families.

This gene has been associated with relevant phenotypes in OMIM (MIM #620113) and Gene2Phenotype ('strong' rating on the DD panel).
Sources: Literature
Intellectual disability v6.58 FRA10AC1 Achchuthan Shanmugasundram Classified gene: FRA10AC1 as Amber List (moderate evidence)
Intellectual disability v6.58 FRA10AC1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families reported with biallelic FRA10AC1 variants and intellectual disability and/ or global developmental delay. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.58 FRA10AC1 Achchuthan Shanmugasundram Gene: fra10ac1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.57 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to Intellectual disability. Sources: Literature
Q3_24_promote_green tags were added to gene: FRA10AC1.
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367; 35871492; 35821753
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Review for gene: FRA10AC1 was set to GREEN
Added comment: PMID:34694367 reported the identification of homozygous FRA10AC1 variants in five individuals from three unrelated consanguineous Arabic families with a neurodevelopmental disorder. The two unrelated patients from two different families with loss-of-function variants (g.4656_7575del and c.561_562insTTTA/ p.Ser188Phefs*6) presented with developmental delay, profound intellectual disability (ID), and no speech, while three siblings from the third family with the c.494_496delAAG (p.Glu165del) variant had borderline to mild ID. There is some functional evidence available for the p.Glu165del variant, which shows that this variant impacts intrinsic stability of FRA10AC1 but does not affect its nuclear localisation.

PMID:35871492 reported the identification of a homozygous nonsense variant (c.328C>T/ p.Arg110Ter) in two sisters from a consanguineous family. They presented with global developmental delay, growth impairment, congenital malformations and facial dysmorphism. Another patient identified from the DECIPHER database was also reported with a ~13kb homozygous deletion encompassing exons 1-3 and with global developmental delay.

PMID:35821753 reported the identification of a homozygous LOF nonsense variant (c.481C>T/ p.Arg161Ter) in two siblings from a highly consanguineous Arab family. They presented with dysmorphic features, failure to thrive, global developmental delay, generalized hypotonia, feeding problems, and congenital heart disease.

This gene has been associated with relevant phenotypes in OMIM (MIM #620113) and Gene2Phenotype ('strong' rating on the DD panel).
Sources: Literature
Hypogonadotropic hypogonadism (GMS) v3.20 FEZF1 Achchuthan Shanmugasundram Classified gene: FEZF1 as Amber List (moderate evidence)
Hypogonadotropic hypogonadism (GMS) v3.20 FEZF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two unrelated cases and some functional evidence available in support of the association of this gene to hypogonadotropic hypogonadism. Hence, this gene can be rated green on the next GMS update.
Hypogonadotropic hypogonadism (GMS) v3.20 FEZF1 Achchuthan Shanmugasundram Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Hypogonadotropic hypogonadism (GMS) v3.19 FEZF1 Achchuthan Shanmugasundram Publications for gene: FEZF1 were set to
Hypogonadotropic hypogonadism (GMS) v3.18 FEZF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FEZF1.
Hypogonadotropic hypogonadism (GMS) v3.18 FEZF1 Achchuthan Shanmugasundram changed review comment from: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.; to: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.

This gene has been associated with relevant phenotypes in OMIM (MIM #616030) and Gene2Phenotype (with 'strong' rating on the DD panel)
Hypogonadotropic hypogonadism (GMS) v3.18 FEZF1 Achchuthan Shanmugasundram edited their review of gene: FEZF1: Changed publications to: 25192046
Hypogonadotropic hypogonadism (GMS) v3.18 FEZF1 Achchuthan Shanmugasundram changed review comment from: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.; to: PMID:25192046 reported the identification of two different homozygous variants (c.832C>T/ p.His278Tyr and c.2270C>T/ p.Arg724Ter) in two unrelated Kurdish families with Kallmann syndrome. In addition, there is functional evidence for c.832C>T variant.
Hypogonadotropic hypogonadism (GMS) v3.18 FEZF1 Achchuthan Shanmugasundram reviewed gene: FEZF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25192046, 32400067; Phenotypes: Hypogonadotropic hypogonadism 22, with or without anosmia, OMIM:616030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ophthalmological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence)
Ophthalmological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update.
Ophthalmological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Ophthalmological ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400; 3482825
Ophthalmological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Changed publications to: 34828254
Ophthalmological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763
Ophthalmological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400
Ophthalmological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Ophthalmological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram changed review comment from: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; to: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).

This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel).
Ophthalmological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; Changed rating: GREEN; Changed publications to: 3482825; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v4.6 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Amber List (moderate evidence)
Skeletal ciliopathies v4.6 FAM149B1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update.
Skeletal ciliopathies v4.6 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Amber List (Moderate Evidence).
Skeletal ciliopathies v4.6 FAM149B1 Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome 36, OMIM:618763 to Joubert syndrome 36, OMIM:618763
Skeletal ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763
Skeletal ciliopathies v4.5 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400; 34828254
Skeletal ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400
Skeletal ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Skeletal ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).

This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel).; Changed rating: GREEN; Changed publications to: 34828254; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurological ciliopathies v4.4 FAM149B1 Achchuthan Shanmugasundram Publications for gene: FAM149B1 were set to 30905400
Neurological ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Classified gene: FAM149B1 as Green List (high evidence)
Neurological ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated families and two different variants) for promoting this gene to green rating in the next GMS update.
Neurological ciliopathies v4.3 FAM149B1 Achchuthan Shanmugasundram Gene: fam149b1 has been classified as Green List (High Evidence).
Neurological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram changed review comment from: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; to: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).

This gene has been associated with relevant phenotypes in OMIM (MIM #618763) and Gene2Phenotype (with 'strong' rating on the DD panel).
Neurological ciliopathies v4.2 FAM149B1 Achchuthan Shanmugasundram Phenotypes for gene: FAM149B1 were changed from Joubert syndrome; oral-facial-digital syndrome; OFD VI to Joubert syndrome 36, OMIM:618763
Neurological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Neurological ciliopathies v4.1 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: PMID:34828254 reported the identification of homozygous FAM149B1 variant (c.354_357delinsCACTC/ p.Gln118Hisfs*20) in three adult siblings from a large consanguineous family from Saudi Arabia. This variant is similar to one of the two variants that were previously reported in three unrelated families from Saudi Arabia (c.356_357del/ p.Lys119Ilefs∗18).; Changed rating: GREEN; Changed publications to: 34828254; Changed phenotypes to: Joubert syndrome 36, OMIM:618763; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.30 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Fetal anomalies v4.29 DCC Achchuthan Shanmugasundram Publications for gene: DCC were set to
Fetal anomalies v4.28 DCC Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.27 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC.
Fetal anomalies v4.27 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046, 28250456, 33141514; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v5.11 DCC Achchuthan Shanmugasundram changed review comment from: PMID:28250456 reported childhood-onset progressive scoliosis in three individuals from two different families identified with intragenic deletions. One family had a 7.7kb homozygous deletion (p.Pro11Thrfs*15), while the other family had 7bp homozygous deletion (p.Val263Alafs*36). The third family reported with a homozygous missense variant (p.Gln691Lys) did not present with scoliosis.

PMID:33141514 reported the identification of a novel homozygous frameshift variant (p.Asn800Lysfs*11) in three members of a Pakistani family and they presented with childhood-onset progressive scoliosis.

This gene has been associated with relevant phenotypes in OMIM (MIM #617542) and Gene2Phenotype ('definitive' rating on the DD panel).; to: PMID:28250456 reported childhood-onset progressive scoliosis in three individuals from two different families identified with intragenic deletions. One family had a 7.7kb homozygous deletion (p.Pro11Thrfs*15), while the other family had 7bp homozygous deletion (p.Val263Alafs*36). The third family reported with a homozygous missense variant (p.Gln691Lys) did not present with scoliosis.

PMID:33141514 reported the identification of a novel homozygous frameshift variant (p.Asn800Lysfs*11) in three members of a Pakistani family and they presented with mild scoliosis at birth, which continued to increase progressively.

This gene has been associated with relevant phenotypes in OMIM (MIM #617542) and Gene2Phenotype ('definitive' rating on the DD panel).
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram changed review comment from: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with congenital mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981).

PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood.

PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum.

PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family.

Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.; to: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with congenital mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981).

PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood.

PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum.

PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family, of which four members were symptomatic, showing reduced penetrance of the variant. Two pregnancies in this family were terminated due to prenatal detection of agenesis of the corpus callosum and dilated lateral ventricles. Only one of these foetuses were tested and carried the variant.

Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram changed review comment from: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981).

PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood.

PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum.

PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family.

Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.; to: PMID:20431009 reported the identification of a splice site variant in DCC gene in a 4-generation French Canadian family and 1 bp insertion in a five-generation large Iranian family with congenital mirror movements. Incomplete penetrance was observed in these two families (PMIDs: 19127048 & 19720981).

PMID:21242494 reported the identification of a truncating variant in DCC gene in a 3-generation Italian family with in which 4 individuals had mirror movements of the arms and hands with onset in infancy or early childhood.

PMID:28250454 reported the identification of heterozygous DCC variants in individuals from four unrelated multigenerational families with congenital mirror movements and/or agenesis of the corpus callosum.

PMID:31697046 reported the identification of heterozygous frameshift variant in five members of an Ethiopian Jewish family.

Monoallelic variants of DCC gene has been associated with relevant phenotypes in OMIM (MIM #157600), but not yet in Gene2Phenotype.
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (at least eight unrelated families) for the association of monoallelic DCC variants with mirror movement disorder. Hence, this gene can be promoted to green rating in the next GMS update.
Childhood onset dystonia, chorea or related movement disorder v4.10 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Childhood onset dystonia, chorea or related movement disorder v4.9 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600
Childhood onset dystonia, chorea or related movement disorder v4.8 DCC Achchuthan Shanmugasundram Publications for gene: DCC were set to
Childhood onset dystonia, chorea or related movement disorder v4.7 DCC Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Childhood onset dystonia, chorea or related movement disorder v4.6 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC.
Childhood onset dystonia, chorea or related movement disorder v4.6 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v5.11 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC.
Skeletal dysplasia v5.11 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Skeletal dysplasia v5.11 DCC Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated families reported and hence this gene can be promoted to green rating in the next GMS update.
Skeletal dysplasia v5.11 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v5.10 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542; Gaze palsy, familial horizontal, with progressive scoliosis, 2 617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Skeletal dysplasia v5.9 DCC Achchuthan Shanmugasundram Publications for gene: DCC were set to 28250456
Skeletal dysplasia v5.8 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 28250456, 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.56 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542 to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Intellectual disability v6.56 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Intellectual disability v6.55 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Intellectual disability v6.55 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.55 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Intellectual disability v6.55 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.54 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: None; Publications: 28250456, 33141514; Phenotypes: Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v5.8 COL27A1 Achchuthan Shanmugasundram Classified gene: COL27A1 as Amber List (moderate evidence)
Skeletal dysplasia v5.8 COL27A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Skeletal dysplasia v5.8 COL27A1 Achchuthan Shanmugasundram Gene: col27a1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v5.7 COL27A1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COL27A1.
Skeletal dysplasia v5.7 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503; 31903681; 32360765; 33963180
Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155
Review for gene: COL27A1 was set to GREEN
Added comment: PMID:24986830 reported the identification of a homozygous missense variant in COL27A1 gene (p.Gly697Arg) in a non-consanguineous family of Hispanic Puerto Rican descent with Steel syndrome. The sibling pair presented with bilateral congenital hip dysplasia and coxa vara. The identified variant seems to have arisen as a founder mutation in the Puerto Rican population.

PMID:28276056 reported a 5-year-old girl from a non-consanguineous family of Indian descent with facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis and vertical talus. This patient also had developmental delay and hearing loss and was identified with novel compound heterozygous variants c.521_528del (p.Cys174Serfs*34) and c.2119C>T (p.Arg707Ter) in COL27A1.

PMID:28322503 reported a child from a consanguineous family of Emirati descent with features of Steel syndrome, including bilateral hip dislocations, short upper limbs, and dysmorphic facial features. She had delayed speech and severe bilateral sensorineural hearing loss. She was identified with a novel homozygous splice site variant in COL27A1 (c.3556-2A>G).

PMID:31903681 reported three more patients of Puerto Rican descent with Steel syndrome and with the previously reported founder variant (p.Gly697Arg). They had either hip dislocations or hip dysplasia.

PMID:32360765 reported a 4-year-old boy from a non-consanguineous family of European descent with dysmorphic facial features, absent hip ossification centres, external rotation of both feet, relatively short stature, mild skin syndactyly, short mid phalanges and bilateral sensorineural hearing loss. He was identified with a novel homozygous missense variant p.(Gly802Glu) in COL27A1.

PMID:33963180 reported the identification of novel compound heterozygous variants (c.4229_4233dup/ p.Gly1412Argfs*157 and c.3718_5436del/ p.Gly1240_Lys1812del) in COL27A1 in an 11-year-old child from a non-consanguineous family of Korean descent. He presented with short stature, hip dysplasia, radial head dislocation, carpal coalition, genu valgum, and fixed patellar dislocation and was clinically diagnosed with Steel syndrome.

This gene has been associated with relevant phenotypes in OMIM (MIM #615155) and Gene2Phenotype (with 'definitive' rating on the DD panel).
Sources: Literature
Intellectual disability v6.54 B9D1 Achchuthan Shanmugasundram Classified gene: B9D1 as Amber List (moderate evidence)
Intellectual disability v6.54 B9D1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated individuals reported with Joubert syndrome, where intellectual disability or global developmental delay is part of the phenotype. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.54 B9D1 Achchuthan Shanmugasundram Gene: b9d1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.53 B9D1 Achchuthan Shanmugasundram Publications for gene: B9D1 were set to 21493627; 24886560; 25920555; 32622957
Intellectual disability v6.53 B9D1 Achchuthan Shanmugasundram Publications for gene: B9D1 were set to 24886560; 25920555; 21493627
Intellectual disability v6.52 B9D1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: B9D1.
Intellectual disability v6.52 B9D1 Achchuthan Shanmugasundram reviewed gene: B9D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622957; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.6 RRAS Tracy Lester reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 2470537; Phenotypes: Noonan-like; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Congenital disorders of glycosylation v5.6 DDOST Achchuthan Shanmugasundram Classified gene: DDOST as Amber List (moderate evidence)
Congenital disorders of glycosylation v5.6 DDOST Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (two unrelated patients and some functional evidence) for the promotion of this gene to green rating in the next GMS update.
Congenital disorders of glycosylation v5.6 DDOST Achchuthan Shanmugasundram Gene: ddost has been classified as Amber List (Moderate Evidence).
Congenital disorders of glycosylation v5.5 DDOST Achchuthan Shanmugasundram Phenotypes for gene: DDOST were changed from ?Congenital disorder of glycosylation, type Ir 614507 to Congenital disorder of glycosylation, type Ir, OMIM:614507
Congenital disorders of glycosylation v5.4 DDOST Achchuthan Shanmugasundram Publications for gene: DDOST were set to 22305527
Congenital disorders of glycosylation v5.3 DDOST Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DDOST.
Congenital disorders of glycosylation v5.3 DDOST Achchuthan Shanmugasundram reviewed gene: DDOST: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305527, 34462534; Phenotypes: Congenital disorder of glycosylation, type Ir, OMIM:614507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v6.9 MT-TY Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TY.
Likely inborn error of metabolism v5.22 MT-TY Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TY.
Undiagnosed metabolic disorders v1.620 MT-TY Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TY.
Mitochondrial disorders v6.9 MT-TW Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TW.
Likely inborn error of metabolism v5.22 MT-TW Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TW.
Undiagnosed metabolic disorders v1.620 MT-TW Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TW.
Mitochondrial disorders v6.9 MT-TV Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TV.
Likely inborn error of metabolism v5.22 MT-TV Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TV.
Undiagnosed metabolic disorders v1.620 MT-TV Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TV.
Retinal disorders v5.15 MT-TS2 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2.
Mitochondrial disorders v6.9 MT-TS2 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2.
Likely inborn error of metabolism v5.22 MT-TS2 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2.
Undiagnosed metabolic disorders v1.620 MT-TS2 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS2.
Mitochondrial disorders v6.9 MT-TS1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
Monogenic hearing loss v4.50 MT-TS1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
Likely inborn error of metabolism v5.22 MT-TS1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
Undiagnosed metabolic disorders v1.620 MT-TS1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TS1.
Mitochondrial disorders v6.9 MT-TR Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TR.
Likely inborn error of metabolism v5.22 MT-TR Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TR.
Undiagnosed metabolic disorders v1.620 MT-TR Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TR.
Mitochondrial disorders v6.9 MT-TQ Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TQ.
Likely inborn error of metabolism v5.22 MT-TQ Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TQ.
Undiagnosed metabolic disorders v1.620 MT-TQ Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TQ.
Retinal disorders v5.15 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Mitochondrial disorders v6.9 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
DDG2P v4.6 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Likely inborn error of metabolism v5.22 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Undiagnosed metabolic disorders v1.620 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Mitochondrial disorders v6.9 MT-TN Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TN.
Likely inborn error of metabolism v5.22 MT-TN Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TN.
Undiagnosed metabolic disorders v1.620 MT-TN Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TN.
Mitochondrial disorders v6.9 MT-TM Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TM.
Likely inborn error of metabolism v5.22 MT-TM Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TM.
Undiagnosed metabolic disorders v1.620 MT-TM Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TM.
Mitochondrial disorders v6.9 MT-TL2 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL2.
Likely inborn error of metabolism v5.22 MT-TL2 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL2.
Undiagnosed metabolic disorders v1.620 MT-TL2 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL2.
Hereditary neuropathy or pain disorder v4.11 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Retinal disorders v5.15 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Mitochondrial disorders v6.9 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Hereditary neuropathy v1.480 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Likely inborn error of metabolism v5.22 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Undiagnosed metabolic disorders v1.620 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Monogenic diabetes v2.58 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Familial diabetes v1.67 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Diabetes with additional phenotypes suggestive of a monogenic aetiology v1.67 MT-TL1 Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TL1.
Mitochondrial disorders v6.9 MT-TK Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK.
Likely inborn error of metabolism v5.22 MT-TK Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK.
Undiagnosed metabolic disorders v1.620 MT-TK Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK.
Multiple lipomas v1.1 MT-TK Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TK.
Paediatric or syndromic cardiomyopathy v4.10 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Mitochondrial disorders v6.9 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Likely inborn error of metabolism v5.22 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Undiagnosed metabolic disorders v1.620 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.13 MT-TI Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TI.
Retinal disorders v5.15 MT-TH Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH.
Mitochondrial disorders v6.9 MT-TH Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH.
Likely inborn error of metabolism v5.22 MT-TH Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH.
Undiagnosed metabolic disorders v1.620 MT-TH Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TH.
Mitochondrial disorders v6.9 MT-TG Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TG.
Likely inborn error of metabolism v5.22 MT-TG Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TG.
Undiagnosed metabolic disorders v1.620 MT-TG Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TG.
Mitochondrial disorders v6.9 MT-TF Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF.
Likely inborn error of metabolism v5.22 MT-TF Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF.
Undiagnosed metabolic disorders v1.620 MT-TF Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF.
Unexplained young onset end-stage renal disease v4.7 MT-TF Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF.
Tubulointerstitial kidney disease v3.3 MT-TF Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TF.
Mitochondrial disorders v6.9 MT-TE Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE.
Likely inborn error of metabolism v5.22 MT-TE Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE.
Undiagnosed metabolic disorders v1.620 MT-TE Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TE.
Mitochondrial disorders v6.9 MT-TD Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TD.
Likely inborn error of metabolism v5.22 MT-TD Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TD.
Undiagnosed metabolic disorders v1.620 MT-TD Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TD.
Mitochondrial disorders v6.9 MT-TC Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TC.
Likely inborn error of metabolism v5.22 MT-TC Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TC.
Undiagnosed metabolic disorders v1.620 MT-TC Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TC.
Fetal anomalies v4.27 MIR17HG Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: MIR17HG.
Likely inborn error of metabolism v5.22 MT-RNR1 Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1.
Likely inborn error of metabolism v5.22 MT-TA Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TA.
Hereditary neuropathy v1.480 MT-RNR1 Sarah Leigh Tag locus-type-rna-ribosomal tag was added to gene: MT-RNR1.
Congenital adrenal hypoplasia v3.11 ABCD1 Dmitrijs Rots reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenoleukodystrophy, Adrenomyeloneuropathy, adult; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Early onset or syndromic epilepsy v5.24 CNTN2 Achchuthan Shanmugasundram Classified gene: CNTN2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.24 CNTN2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Early onset or syndromic epilepsy v5.24 CNTN2 Achchuthan Shanmugasundram Gene: cntn2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.23 CNTN2 Achchuthan Shanmugasundram Phenotypes for gene: CNTN2 were changed from Epilepsy, familial adult myoclonic, 5 to Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400
Early onset or syndromic epilepsy v5.22 CNTN2 Achchuthan Shanmugasundram Publications for gene: CNTN2 were set to
Early onset or syndromic epilepsy v5.21 CNTN2 Achchuthan Shanmugasundram Mode of inheritance for gene: CNTN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.20 CNTN2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CNTN2.
Tag Q3_24_NHS_review tag was added to gene: CNTN2.
Early onset or syndromic epilepsy v5.20 CNTN2 Achchuthan Shanmugasundram edited their review of gene: CNTN2: Added comment: PMID:23518707 reported a consanguineous Egyptian family in which five siblings aged 11 to 14 years had seizures and were identified with a homozygous frameshift CNTN2 variant (p.Trp168fs).

PMID:34691156 reported a 10-year old boy born of unrelated parents of Han Chinese descent, with developmental delay and onset of generalised tonic-clonic seizures at 5 years of age and identified with a homozygous frameshift CNTN2 variant (p.Thr958Thrfs).

PMID:36553572 reported a 13-year-old boy with global developmental delay and epileptic encephalopathy and was associated with a homozygous nonsense variant (p.Arg314Ter) in the CNTN2 gene.

PMID:37359369 reported a consanguineous Pakistani family in which four siblings developed various types of seizures late in the first decade of their life and had global developmental,ental delay with mild intellectual disability. They were identified with a homozygous nonsense CNTN2 variant (p.Glu567Ter)

This gene has been associated with relevant phenotypes in OMIM (MIM #615400), but not yet in Gene2Phenotype.; Changed publications to: 23518707, 34691156, 36553572, 37359369
Intellectual disability v6.52 MSL2 Nour Elkhateeb reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38815585, 38702431; Phenotypes: Developmental delay, intellectual disability, autism spectrum disorder, hypotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v5.20 CNTN2 Achchuthan Shanmugasundram reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, early-onset, 5, with or without developmental delay, OMIM:615400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.52 TBC1D7 Achchuthan Shanmugasundram Tag watchlist was removed from gene: TBC1D7.
Tag Q3_24_promote_green tag was added to gene: TBC1D7.
Tag Q3_24_NHS_review tag was added to gene: TBC1D7.
Intellectual disability v6.52 TBC1D7 Achchuthan Shanmugasundram Classified gene: TBC1D7 as Amber List (moderate evidence)
Intellectual disability v6.52 TBC1D7 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Frances Elmslie, PMID:36669495 reported an additional case with compound heterozygous variants (identified via trio RNA-Seq) and presenting with a neurodevelopmental disorder involving mild intellectual disability.

Hence, this gene can be promoted to green rating with the current evidence (three unrelated cases and functional studies) in the next GMS update.
Intellectual disability v6.52 TBC1D7 Achchuthan Shanmugasundram Gene: tbc1d7 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.51 TBC1D7 Achchuthan Shanmugasundram Publications for gene: TBC1D7 were set to PMID: 23687350; 24515783
Intellectual disability v6.50 TBC1D7 Achchuthan Shanmugasundram reviewed gene: TBC1D7: Rating: GREEN; Mode of pathogenicity: None; Publications: 36669495; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 ARSA Alexander Rossor edited their review of gene: ARSA: Added comment: Peripheral neuropathy is a well recognised feature of metachromatic leukodystrophy; Changed publications to: 31684987; Changed phenotypes to: Metachromatic leukodystrophy. Severe late infantile form with mental retardation and severe course. Regression before 30 months, adult onset, psychiatric symptoms, leukodystrophy on MRI, progressive neuropathy with SNCV, optic atrophy
Hereditary neuropathy or pain disorder v4.11 APTX Alexander Rossor edited their review of gene: APTX: Added comment: APTX recessive variants are a well established cause of cerebellar ataxia and peripheral neuropathy; Changed rating: GREEN; Changed publications to: 11176957
Fetal hydrops v1.86 GATA1 Sarah Leigh Phenotypes for gene: GATA1 were changed from Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, MIM#300835 to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
Fetal hydrops v1.85 GATA1 Sarah Leigh Publications for gene: GATA1 were set to 10700180; 33082562
Fetal hydrops v1.84 GATA1 Sarah Leigh Classified gene: GATA1 as Green List (high evidence)
Fetal hydrops v1.84 GATA1 Sarah Leigh Gene: gata1 has been classified as Green List (High Evidence).
Fetal hydrops v1.83 GATA1 Sarah Leigh reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301538, 30914438, 29949202, 35580337; Phenotypes: Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083; Mode of inheritance: None
Fetal hydrops v1.83 GATA1 Sarah Leigh Publications for gene: GATA1 were set to 10700180
Fetal hydrops v1.82 G6PD Sarah Leigh Publications for gene: G6PD were set to 33082562
Fetal hydrops v1.81 G6PD Sarah Leigh reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: None; Publications: 23719252; Phenotypes: ; Mode of inheritance: None
Fetal hydrops v1.81 G6PD Sarah Leigh Publications for gene: G6PD were set to PMID: 33082562
Fetal hydrops v1.80 G6PD Sarah Leigh Classified gene: G6PD as Amber List (moderate evidence)
Fetal hydrops v1.80 G6PD Sarah Leigh Gene: g6pd has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.27 FZD6 Sarah Leigh Phenotypes for gene: FZD6 were changed from NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 to Nail disorder, nonsyndromic congenital, 1, OMIM:161050
Fetal anomalies v4.26 FZD6 Sarah Leigh Publications for gene: FZD6 were set to
Fetal anomalies v4.25 FZD6 Sarah Leigh Classified gene: FZD6 as Amber List (moderate evidence)
Fetal anomalies v4.25 FZD6 Sarah Leigh Gene: fzd6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.24 FZD6 Sarah Leigh reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.79 FZD6 Sarah Leigh Classified gene: FZD6 as Amber List (moderate evidence)
Fetal hydrops v1.79 FZD6 Sarah Leigh Gene: fzd6 has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.78 FZD6 Sarah Leigh reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.78 FZD6 Sarah Leigh Phenotypes for gene: FZD6 were changed from Nonimmune hydrops fetalis to Nail disorder, nonsyndromic congenital, 1, OMIM:161050
Fetal hydrops v1.77 FZD6 Sarah Leigh Mode of inheritance for gene: FZD6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.76 FZD6 Sarah Leigh Publications for gene: FZD6 were set to 33082562; 26036949
Fetal hydrops v1.75 FZD6 Sarah Leigh Publications for gene: FZD6 were set to 33082562; 26036949
Fetal hydrops v1.74 FZD6 Sarah Leigh Publications for gene: FZD6 were set to 33082562
Fetal hydrops v1.73 FZD6 Sarah Leigh Publications for gene: FZD6 were set to PMID: 33082562
Fetal hydrops v1.72 CDC42 Sarah Leigh reviewed gene: CDC42: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal hydrops v1.72 CDC42 Sarah Leigh Classified gene: CDC42 as Amber List (moderate evidence)
Fetal hydrops v1.72 CDC42 Sarah Leigh Gene: cdc42 has been classified as Amber List (Moderate Evidence).
Fetal hydrops v1.71 CDC42 Sarah Leigh Publications for gene: CDC42 were set to 3308256229335451; 26708094
Fetal hydrops v1.70 CDC42 Sarah Leigh Publications for gene: CDC42 were set to 33082562
Fetal hydrops v1.69 CDC42 Sarah Leigh Publications for gene: CDC42 were set to PMID: 33082562
Fetal hydrops v1.68 CANT1 Sarah Leigh Classified gene: CANT1 as Green List (high evidence)
Fetal hydrops v1.68 CANT1 Sarah Leigh Gene: cant1 has been classified as Green List (High Evidence).
Fetal anomalies v4.24 ANGPT2 Sarah Leigh Entity copied from Fetal hydrops v1.67
Fetal anomalies v4.24 ANGPT2 Sarah Leigh gene: ANGPT2 was added
gene: ANGPT2 was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 32908006; 34876502
Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Fetal hydrops v1.67 ANGPT2 Sarah Leigh Mode of inheritance for gene: ANGPT2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops v1.66 ANGPT2 Sarah Leigh Mode of inheritance for gene: ANGPT2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal hydrops v1.65 ALPK3 Sarah Leigh Classified gene: ALPK3 as Green List (high evidence)
Fetal hydrops v1.65 ALPK3 Sarah Leigh Gene: alpk3 has been classified as Green List (High Evidence).
Fetal hydrops v1.64 ALPK3 Sarah Leigh reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, familial hypertrophic 27, OMIM:618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.20 CNTN2 Sarah Graham reviewed gene: CNTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37359369, 34691156, 28397838, 36553572; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v1.34 TYROBP Ian Berry reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.3 DGKE Achchuthan Shanmugasundram Tag for-review was removed from gene: DGKE.
Tag to_be_confirmed_NHSE was removed from gene: DGKE.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v3.3 CFH Achchuthan Shanmugasundram Tag for-review was removed from gene: CFH.
Tag to_be_confirmed_NHSE was removed from gene: CFH.
Acute rhabdomyolysis v1.18 CYP2C8 Achchuthan Shanmugasundram changed review comment from: The rating of this gene remains red as the MOI is unknown and rhabdomyolysis is drug-induced rather than inherited.; to: The rating of this gene remains red as the MOI is unknown and rhabdomyolysis is drug-induced rather than inherited.
Acute rhabdomyolysis v1.18 CYP2C8 Achchuthan Shanmugasundram reviewed gene: CYP2C8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v6.50 TBC1D7 Frances Elmslie reviewed gene: TBC1D7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24515783, 23687350, 36669495, 35584673; Phenotypes: Macrocephaly, intellectual disability, megalencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Acute rhabdomyolysis v1.18 CYP2C8 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: CYP2C8.
Intellectual disability v6.50 RNU4-2 Arina Puzriakova changed review comment from: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID: 38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.
Early onset or syndromic epilepsy v5.20 RNU4-2 Arina Puzriakova changed review comment from: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID: 38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.
Severe microcephaly v5.15 RNU4-2 Arina Puzriakova changed review comment from: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID: 38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.
Intellectual disability v6.50 RNU4-2 Arina Puzriakova changed review comment from: Comment on list classification: The two papers (PMID: 38821540; 38645094) corroborate mutual findings and report over 100 unrelated individuals with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2.

Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.; to: Comment on list classification: Multiple individuals have been identified in PMID: 38821540 with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Additional cases with mutual findings have also been reported in PMID: 38645094, corroborating this gene-disease association - however, PMID: 38645094 is still in preprint at this time.

Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.
Early onset or syndromic epilepsy v5.20 RNU4-2 Arina Puzriakova changed review comment from: Comment on list classification: The two papers (PMID: 38821540; 38645094) corroborate mutual findings and report over 100 unrelated individuals with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2.

Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.; to: Comment on list classification: Multiple individuals have been identified in PMID: 38821540 with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Additional cases with mutual findings have also been reported in PMID: 38645094, corroborating this gene-disease association - however, PMID: 38645094 is still in preprint at this time.

Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.
Severe microcephaly v5.15 RNU4-2 Arina Puzriakova changed review comment from: Comment on list classification: The two papers (PMID: 38821540; 38645094) corroborate mutual findings and report over 100 unrelated individuals with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2.

Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.; to: Comment on list classification: Multiple individuals have been identified in PMID: 38821540 with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2. Additional cases with mutual findings have also been reported in PMID: 38645094, corroborating this gene-disease association - however, PMID: 38645094 is still in preprint at this time.

Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.
Intellectual disability v6.50 RNU4-2 Arina Puzriakova changed review comment from: Second paper by Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings with the PMID: 38645094 paper (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.
Early onset or syndromic epilepsy v5.20 RNU4-2 Arina Puzriakova changed review comment from: Second paper by Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings with the PMID: 38645094 paper (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.
Severe microcephaly v5.15 RNU4-2 Arina Puzriakova changed review comment from: Second paper by Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings with the PMID: 38645094 paper (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.; to: Greene et al. 2024 (PMID: 38821540) reported on 73 unrelated cases with a neurodevelopmental disorder associated with heterozygous variants in the RNU4-2 gene, overlapping findings in PMID:38645094 (still currently in preprint). Participants were identified through their enrolment in various cohorts including the 100,000 Genomes Project, NHSE Genomic Medicine Service (GMS), and NIHR BioResource.

Almost all variants were acquired de novo, with the exception of one variant that was inherited from an affected mother and 16 probands with unknown inheritance due to lack of parental genotype data.
Variants cluster in two regions of RNU4-2 (n.62–70 and n.73–79) but the majority of cases harboured a recurrent variant, n.64_65insT.

Clinical presentation was predominantly characterised by intellectual disability, but other observed features include microcephaly, proportionate short stature, hypotonia, seizures and motor delay.
Retinal disorders v5.15 AHR Mohammed Derar changed review comment from: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.
Retinal disorders v5.15 DCT Mohammed Derar gene: DCT was added
gene: DCT was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: DCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCT were set to (Pennamen et al., 2021) (PMID: 33100333); (Volk et al., 2021) (PMID: 33959807)
Phenotypes for gene: DCT were set to oculocutaneous albinism; foveal hypoplasia; chiasmal misrouting; iris transillumination defect; nystagmus; ocular hypopigmentation
Penetrance for gene: DCT were set to Complete
Review for gene: DCT was set to GREEN
Added comment: Biallelic variants in DCT are reported to cause oculocutaneous albinism type 8 in multiple unrelated and affected families. This form of albinism has subtle hypopigmentation and displays the classical ocular manifestations of foveal hypoplasia, iris transillumination defect and fundus hypopigmentation. It is therefore imperative to sprobe DCT in patients with retinal abnormalities and presumbly normal pigmentation.
Sources: Literature
Retinal disorders v5.15 SLC38A8 Mohammed Derar changed review comment from: Biallelic variants in SLC38A8 cause isolated foveal hypoplasia, chisamal misrouting in the absence of pigmentation defects. The variable phenotype being anterior segment dysgenesis (Poulter et al., 2013). Bare in mind chiasmal misrouting is not always reported due to lack of access to the visual evoked potentials (VEP) test, technical difficulty in performing the test on infants and inconsistent results during childhood (Campbell et al., 2019). The differential feature of SLC38A8 is the absence of pigmentation defects however assessing pigmentation status proves challenging especially in fair populations thus some genuine SLC38A8 cases are misdiagnosed as albinism (Campbell et al., 2019). Oculomotor defects such as nystagmus accompanies foveal hypoplasia in its syndromic and isolated forms.; to: Biallelic variants in SLC38A8 cause isolated foveal hypoplasia, chisamal misrouting in the absence of pigmentation defects. The variable phenotype being anterior segment dysgenesis (Poulter et al., 2013). Bare in mind chiasmal misrouting is not always reported due to lack of access to the visual evoked potentials (VEP) test, technical difficulty in performing the test on infants and inconsistent results during childhood (Campbell et al., 2019). The differential feature of SLC38A8 is the absence of pigmentation defects however assessing pigmentation status proves challenging especially in fair populations thus some genuine SLC38A8 cases are misdiagnosed as albinism (Campbell et al., 2019). Oculomotor defects such as nystagmus accompanies isolated foveal hypoplasia.
Retinal disorders v5.15 AHR Mohammed Derar changed review comment from: additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: Additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.
Retinal disorders v5.15 AHR Mohammed Derar changed review comment from: Unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; to: additional unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.
Retinal disorders v5.15 FRMD7 Mohammed Derar edited their review of gene: FRMD7: Added comment: Further evidence from a study studing 904 patients with foveal hypoplasia detected FRMD7 variants in 3.5% of the cohort. The phenotype associated with FRMD7 mutations was a grade 1 foveal hypoplasia.; Changed publications to: (Choi et al., 2018) (PMID: 30025138), (Thomas et al., 2014) (PMID:24688117), (Kuht et al., 2022) (PMID:35157951)
Retinal disorders v5.15 FRMD7 Mohammed Derar changed review comment from: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014)
Sources: Literature; to: Mutations in FRMD7 are known to cause infantile nystagmus in an X-linked inheritance (Choi et al., 2018). Recently, with the aid of spectral domain OCT, patients with missense, splice site and nonsense variants in FRMD7 showed a shallow foveal pit diagnosed as grade 1foveal hypoplasia (Thomas et al., 2014)
Sources: Literature
Retinal disorders v5.15 PAX6 Mohammed Derar changed review comment from: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; to: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) having monoallelic variants in PAX6.
Respiratory ciliopathies including non-CF bronchiectasis v3.11 DAW1 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: DAW1.
Laterality disorders and isomerism v3.15 DAW1 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: DAW1.
Paroxysmal central nervous system disorders v3.10 RHOBTB2 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: RHOBTB2.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.34 SMCHD1 Achchuthan Shanmugasundram Mode of inheritance for gene: SMCHD1 was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 SMCHD1 Achchuthan Shanmugasundram Tag Q1_24_MOI was removed from gene: SMCHD1.
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v4.33 HMGCR Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: HMGCR.
Optic neuropathy v4.30 LETM1 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: LETM1.
Possible mitochondrial disorder - nuclear genes v3.106 LETM1 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: LETM1.
Familial hypoparathyroidism v2.15 STX16 Achchuthan Shanmugasundram Tag Q4_22_MOI was removed from gene: STX16.
Monogenic hearing loss v4.50 LETM1 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: LETM1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 IL6ST Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, MOI of this gene should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.; to: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, there is sufficient evidence available for the association of monoallelic IL6ST variants to this panel. Hence, the MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 IL6ST Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed previously by Zornitza Stark, MOI of this gene should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.10 IL6ST Achchuthan Shanmugasundram Mode of inheritance for gene: IL6ST was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.9 IL6ST Achchuthan Shanmugasundram Phenotypes for gene: IL6ST were changed from Hyper-IgE recurrent infection syndrome 4, autosomal recessive 618523; Stuve-Wiedemann-like syndrome: skeletal dysplasia, neonatal lung dysfunction, thrombocytopenia, dermatitis, defective acute-phase response.; Hyper-IgE syndrome, autosomal dominant to Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752; ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750; Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523; Stuve-Wiedemann syndrome 2, OMIM:619751
Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 IL6ST Achchuthan Shanmugasundram Tag Q3_24_MOI tag was added to gene: IL6ST.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 IL6ST Achchuthan Shanmugasundram reviewed gene: IL6ST: Rating: GREEN; Mode of pathogenicity: Other; Publications: 32207811; Phenotypes: Hyper-IgE syndrome 4A, autosomal dominant, with recurrent infections, OMIM:619752, ?Immunodeficiency 94 with autoinflammation and dysmorphic facies, OMIM:619750, Hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections, OMIM:618523, Stuve-Wiedemann syndrome 2, OMIM:619751; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Retinal disorders v5.15 PAX6 Mohammed Derar edited their review of gene: PAX6: Added comment: Additional evidence from multiple families with isolated foveal hypoplasia (without aniridia) and monoallelic variants in PAX6.; Changed publications to: (Hingorani et al., 2009) (PMID: 19218613), (Thomas et al., 2014) (PMID: 23942204), (Cunha et al., 2021) (PMID: 33024313), (Jiang et al., 2021) (PMID:34415986), (Azuma et al., 1996) (https://doi.org/10.1086/302529)
Retinal disorders v5.15 AHR Mohammed Derar edited their review of gene: AHR: Added comment: Unrelated families with foveal hypoplasia have been reported with biallelic mutations in AHR. The mutations detected were homozygous nonesense variants in two different patients and a splicing variant in another patient.; Changed publications to: (Mayer et al., 2019) (PMID: 31009037), (Borovok et al., 2020) (PMID: 33193710), (AlMoallem et al., 2022) (PMID:35188035)
Amyotrophic lateral sclerosis/motor neuron disease v1.69 UNC13A David Collier reviewed gene: UNC13A: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 32627229, PMID: 19734901, PMID: 35197628, PMID: 30739198, PMID: 24931836; Phenotypes: ALS, amyotrophic lateral sclerosis, motor neuron disease, MND, Frontotemporal Dementia (FTD), ALS and FTD (FTD-TDP); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amyotrophic lateral sclerosis/motor neuron disease v1.69 ANXA11 David Collier reviewed gene: ANXA11: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28469040, PMID: 30337194, PubMed: 34048612; Phenotypes: ALS, amyotrophic lateral sclerosis, ALS 23, motor neuron disease, Inclusion body myopathy and brain white matter abnormalities (IBMWMA, MULTISYSTEM PROTEINOPATHY 6, MSP6); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare genetic inflammatory skin disorders v3.20 RNU12 Arina Puzriakova Phenotypes for gene: RNU12 were changed from porokeratosis; erythematous cutaneous eruption to CDAGS syndrome, OMIM:603116; porokeratosis; erythematous cutaneous eruption
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova Tag gene-checked was removed from gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 RNU12 Arina Puzriakova Tag gene-checked was removed from gene: RNU12.
Amyotrophic lateral sclerosis/motor neuron disease v1.69 SPG11 David Collier reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: None; Publications: PubMed: 20110243, PMID: 36445564, PMID: 37133535, PMID: 27066562, PMID: 25681989, PMID: 38938072; Phenotypes: Juvenile amyotrophic lateral sclerosis (ALS) with long survival, hereditary motor sensory neuropathy (Charcot–Marie–Tooth disease type 2X), and multiple sclerosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 RNU12 Arina Puzriakova commented on gene: RNU12: This gene has been tagged again for promotion from Amber to Green as there is enough evidence to support a gene-disease association. RNU12 was not previously added as it is a non-coding gene that was not tiered but it has since been added to the tiering pipeline. Therefore it is appropriate to upgrade it to Green status.
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 RNU12 Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: RNU12.
Tag Q3_24_promote_green tag was added to gene: RNU12.
Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova commented on gene: RNU12: Removed 'currently-ngs-unreportable' tag as tiering of non-coding genes including RNU12, has now been added to the Genomics England Rare Disease pipeline. The Ensembl ID for RNU12 has also been added.
Rare genetic inflammatory skin disorders v3.19 RNU12 Arina Puzriakova Tag currently-ngs-unreportable was removed from gene: RNU12.
Rare syndromic craniosynostosis or isolated multisuture synostosis v5.1 RNU12 Arina Puzriakova commented on gene: RNU12
Amyotrophic lateral sclerosis/motor neuron disease v1.69 SQSTM1 David Collier reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22084127 PMID: 23417734 PMID: 23303844 PMID: 22972638 PMID: 24138988 PMID: 24042580 PMID: 23942205, PMID: 23812289, PMID: 25700176, PMID: 28889094, PMID: 29457785, PMID: 31859009, PMID: 32028661; Phenotypes: ALS, MND, motor neuron disease, Amyotrophic Lateral Sclerosis, Amyotrophic Lateral Sclerosis 3, Paget's disease of bone, frontotemporal lobar degeneration, Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy, Myopathy, distal, with rimmed vacuoles; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
White matter disorders and cerebral calcification - narrow panel v4.4 NAA60 Sarah Leigh Phenotypes for gene: NAA60 were changed from NAA60 associated autosomal recessive primary familial brain calcifications to Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786; basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977
Hereditary ataxia with onset in adulthood v5.4 NAA60 Sarah Leigh Phenotypes for gene: NAA60 were changed from NAA60 associated autosomal recessive primary familial brain calcifications to Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786; basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977
Adult onset neurodegenerative disorder v5.8 NAA60 Sarah Leigh Phenotypes for gene: NAA60 were changed from NAA60 associated autosomal recessive primary familial brain calcifications to Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786; basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977
Adult onset neurodegenerative disorder v5.7 NAA60 Sarah Leigh Tag Q2_24_MOI was removed from gene: NAA60.
White matter disorders and cerebral calcification - narrow panel v4.3 NAA60 Sarah Leigh Tag Q2_24_MOI was removed from gene: NAA60.
Hereditary ataxia with onset in adulthood v5.3 NAA60 Sarah Leigh Tag Q2_24_MOI was removed from gene: NAA60.
Hereditary ataxia with onset in adulthood v5.3 NAA60 Sarah Leigh edited their review of gene: NAA60: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
White matter disorders and cerebral calcification - narrow panel v4.3 NAA60 Sarah Leigh edited their review of gene: NAA60: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 IL1R1 Achchuthan Shanmugasundram Classified gene: IL1R1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 IL1R1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dmitrijs Rots, PMID:37315560 reported the identification of monoallelic IL1R1 variant (p.Lys131Glu) in a patient with chronic recurrent multifocal osteomyelitis and some functional evidence in support of the association.

Hence, this gene can be rated amber with the current evidence.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.8 IL1R1 Achchuthan Shanmugasundram Gene: il1r1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v5.7 IL1R1 Achchuthan Shanmugasundram Phenotypes for gene: IL1R1 were changed from chronic recurrent multifocal osteomyelitis to ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680
Primary immunodeficiency or monogenic inflammatory bowel disease v5.6 IL1R1 Achchuthan Shanmugasundram Publications for gene: IL1R1 were set to PMID: 37315560
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 IL1R1 Achchuthan Shanmugasundram edited their review of gene: IL1R1: Changed rating: AMBER
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 IL1R1 Achchuthan Shanmugasundram reviewed gene: IL1R1: Rating: RED; Mode of pathogenicity: None; Publications: 37315560; Phenotypes: ?Chronic recurrent multifocal osteomyelitis 3, OMIM:259680; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.50 DIP2B Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.50 DIP2B Achchuthan Shanmugasundram Classified gene: DIP2B as Red List (low evidence)
Intellectual disability v6.50 DIP2B Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by others, only STRs in DIP2B were previously associated with intellectual disability. Hence, the rating should be changed from amber to red and the STR should be added to this panel.
Intellectual disability v6.50 DIP2B Achchuthan Shanmugasundram Gene: dip2b has been classified as Red List (Low Evidence).
Intellectual disability v6.50 DIP2B Achchuthan Shanmugasundram Classified gene: DIP2B as Red List (low evidence)
Intellectual disability v6.50 DIP2B Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by others, only STRs in DIP2B were previously associated with intellectual disability. Hence, the rating should be changed from amber to red and the STR should be added to this panel.
Intellectual disability v6.50 DIP2B Achchuthan Shanmugasundram Gene: dip2b has been classified as Red List (Low Evidence).
Fetal anomalies v4.23 ESAM Achchuthan Shanmugasundram Tag Q4_23_expert_review was removed from gene: ESAM.
Tag Q4_23_NHS_review tag was added to gene: ESAM.
Adult onset neurodegenerative disorder v5.7 NAA60 Sarah Leigh edited their review of gene: NAA60: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v5.8 COL4A3 John Sayer changed review comment from: evidence pointing for CDOL4A3/4/5 causing mild cystic phenotypes
Sources: Research; to: evidence pointing for COL4A3/4/5 causing mild cystic phenotypes
Sources: Research
Cystic kidney disease v5.8 COL4A3 John Sayer gene: COL4A3 was added
gene: COL4A3 was added to Cystic kidney disease. Sources: Research
Mode of inheritance for gene: COL4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A3 were set to 38178635; 35602506
Phenotypes for gene: COL4A3 were set to cystic kidney disease; proteinuria; haematuria
Penetrance for gene: COL4A3 were set to Incomplete
Review for gene: COL4A3 was set to RED
Added comment: evidence pointing for CDOL4A3/4/5 causing mild cystic phenotypes
Sources: Research
Cystic kidney disease v5.8 COL4A4 John Sayer changed review comment from: may phenocopy PKD1
Sources: Other; to: may phenocopy PKD1
Sources: Other


additional new publication
PMID: 38178635
Cystic kidney disease v5.8 COL4A5 John Sayer commented on gene: COL4A5: Additional publication supporting this gene with cystic kidney phenotypes
PMID: 38680391
Intellectual disability v6.49 HSD17B10 Achchuthan Shanmugasundram Deleted their review
Intellectual disability v6.49 HSD17B10 Achchuthan Shanmugasundram reviewed gene: HSD17B10: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease - additional genes v0.0 Achchuthan Shanmugasundram Added Panel Unexplained young onset end-stage renal disease - additional genes
Set panel types to: GMS Rare Disease Virtual; GMS Rare Disease; Component Of Super Panel
Pulmonary arterial hypertension v3.6 SARS2 Achchuthan Shanmugasundram Mode of inheritance for gene: SARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Retinal disorders v5.15 CLEC3B Dmitrijs Rots gene: CLEC3B was added
gene: CLEC3B was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: CLEC3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLEC3B were set to PMID: 35331648
Phenotypes for gene: CLEC3B were set to Macular dystrophy, retinal, 4
Review for gene: CLEC3B was set to GREEN
Added comment: The study described: "5 multigenerational families diagnosed with autosomal dominant maculoretinopathy were found to carry a pathogenic variant in a new gene, CLEC3B, which encodes tetranectin, a plasminogen kringle-4 binding protein. Consistent with the disease phenotypes of patients, mice that received subretinal injections with the CLEC3B variant displayed multiple subretinal hyperreflective deposits, reduced retinal thickness, and decreased electroretinographic responses. Moreover, the optokinetic tracking response indicated that spatial frequency was significantly lower (P < .05), implying impaired visual function in these mice."
Sources: Literature
Intellectual disability v6.49 FEM1B Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As recently reviewed by Zornitza Stark, five unrelated individuals are reported with a syndromic neurodevelopmental disorder and identified with the same missense variant p.Arg126Gln. All five individuals presented with global developmental delay and all four patients tested for intellectual disability had ID.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.

Although only one variant was reported, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As recently reviewed by Zornitza Stark, five unrelated individuals were reported with a syndromic neurodevelopmental disorder and identified with the same missense variant p.Arg126Gln. All five individuals presented with global developmental delay and all four patients tested for intellectual disability had ID.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.

Although only one variant was reported, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.49 FEM1B Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As recently reviewed by Zornitza Stark, five unrelated individuals are reported with a syndromic neurodevelopmental disorder and identified with the same missense variant p.Arg126Gln.

Although only one variant was reported, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As recently reviewed by Zornitza Stark, five unrelated individuals are reported with a syndromic neurodevelopmental disorder and identified with the same missense variant p.Arg126Gln. All five individuals presented with global developmental delay and all four patients tested for intellectual disability had ID.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.

Although only one variant was reported, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.49 FEM1B Achchuthan Shanmugasundram Classified gene: FEM1B as Amber List (moderate evidence)
Intellectual disability v6.49 FEM1B Achchuthan Shanmugasundram Added comment: Comment on list classification: As recently reviewed by Zornitza Stark, five unrelated individuals are reported with a syndromic neurodevelopmental disorder and identified with the same missense variant p.Arg126Gln.

Although only one variant was reported, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.49 FEM1B Achchuthan Shanmugasundram Gene: fem1b has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.48 FEM1B Achchuthan Shanmugasundram Phenotypes for gene: FEM1B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.48 FEM1B Achchuthan Shanmugasundram Phenotypes for gene: FEM1B were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.48 FEM1B Achchuthan Shanmugasundram Phenotypes for gene: FEM1B were changed from Syndromic intellectual disability to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.48 FEM1B Achchuthan Shanmugasundram Publications for gene: FEM1B were set to 31036916; 38465576
Intellectual disability v6.48 FEM1B Achchuthan Shanmugasundram Publications for gene: FEM1B were set to 31036916; 38465576
Intellectual disability v6.48 FEM1B Achchuthan Shanmugasundram Publications for gene: FEM1B were set to 31036916
Intellectual disability v6.47 FEM1B Achchuthan Shanmugasundram Mode of inheritance for gene: FEM1B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.47 FEM1B Achchuthan Shanmugasundram Mode of inheritance for gene: FEM1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.46 FEM1B Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: FEM1B.
Intellectual disability v6.46 FEM1B Achchuthan Shanmugasundram edited their review of gene: FEM1B: Changed rating: GREEN
Intellectual disability v6.46 FEM1B Achchuthan Shanmugasundram reviewed gene: FEM1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Amelogenesis imperfecta v3.9 AMBN Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: AMBN.
Amelogenesis imperfecta v3.9 AMBN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: There is sufficient evidence available for the association of both monoallelic and biallelic AMBN variants with amelogenesis imperfecta. However, only the autosomal recessive phenotype has been reported in OMIM.

The MOI should be updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' in the next GMS update.
Amelogenesis imperfecta v3.9 AMBN Achchuthan Shanmugasundram Mode of inheritance for gene: AMBN was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Amelogenesis imperfecta v3.8 AMBN Achchuthan Shanmugasundram Phenotypes for gene: AMBN were changed from Amelogenesis imperfecta, type IF, 616270 to Amelogenesis imperfecta, type IF, OMIM:616270
Amelogenesis imperfecta v3.7 AMBN Achchuthan Shanmugasundram Publications for gene: AMBN were set to 24858907; 26502894
Amelogenesis imperfecta v3.6 AMBN Achchuthan Shanmugasundram reviewed gene: AMBN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30174330, 31402633, 38058155; Phenotypes: Amelogenesis imperfecta, type IF, OMIM:616270; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although all four unrelated families had the same variant, there is functional evidence available for the variant. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: Although all four unrelated families harboured the same variant, there is functional evidence available for this variant. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram Classified gene: NUDCD3 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although all four unrelated families had the same variant, there is functional evidence available for the variant. Hence, this gene can be promoted to green rating in the next GMS update.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.5 NUDCD3 Achchuthan Shanmugasundram Gene: nudcd3 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v5.7 RAB32 Dmitrijs Rots gene: RAB32 was added
gene: RAB32 was added to Adult onset neurodegenerative disorder. Sources: Literature
Mode of inheritance for gene: RAB32 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB32 were set to PMID: 38858457
Phenotypes for gene: RAB32 were set to Parkinson’s disease
Mode of pathogenicity for gene: RAB32 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: RAB32 was set to GREEN
Added comment: The PMID: 38858457 paper describes: "Exome-wide analyses converged on RAB32 as a novel PD gene identifying c.213C > G/p.S71R as a high-risk variant presenting in ~0.7% of familial PD cases while observed in only 0.004% of controls (odds ratio of 65.5). This variant was confirmed in all cases via Sanger sequencing and segregated with PD in three families." + functional data. Enough evidence for the green rating.
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v5.4 NUDCD3 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: NUDCD3.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.4 NUDCD3 Achchuthan Shanmugasundram gene: NUDCD3 was added
gene: NUDCD3 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: NUDCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDCD3 were set to 38787962
Phenotypes for gene: NUDCD3 were set to severe combined immunodeficiency, MONDO:0015974; Omenn syndrome, MONDO:0011338
Review for gene: NUDCD3 was set to GREEN
Added comment: PMID:38787962 reported 11 patients across four consanguineous kindreds with a single deleterious missense variant in NUDCD3 gene in homozygous state. Two infants had severe combined immunodeficiency with the complete absence of T and B cells), whereas nine showed classical features of Omenn syndrome.

Patient cells showed reduced expression of NUDCD3 protein and diminished ability to support RAG-mediated recombination in vitro. Although impaired V(D)J recombination in a mouse model bearing the homologous variant led to milder immunologic abnormalities, NUDCD3 is absolutely required for healthy T and B cell development in humans.

This gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Monogenic hearing loss v4.50 PKHD1L1 Achchuthan Shanmugasundram Classified gene: PKHD1L1 as Amber List (moderate evidence)
Monogenic hearing loss v4.50 PKHD1L1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Barbara Vona and reported in PMID:38459354, there are four unrelated cases reported with biallelic PKHD1L1 variants and non-syndromic sensorineural hearing loss. In addition, there are data from mouse and zebrafish models available in support of the disease association.

This gene has been associated with relevant phenotype in OMIM (MIM #620794), but not yet in Gene2Phenotype.

Hence, this gene can be promoted to green rating in the next GMS update.
Monogenic hearing loss v4.50 PKHD1L1 Achchuthan Shanmugasundram Gene: pkhd1l1 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.49 PKHD1L1 Achchuthan Shanmugasundram Phenotypes for gene: PKHD1L1 were changed from Deafness, autosomal recessive 124, OMIM:620794 to Deafness, autosomal recessive 124, OMIM:620794
Monogenic hearing loss v4.49 PKHD1L1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PKHD1L1.
Monogenic hearing loss v4.49 PKHD1L1 Achchuthan Shanmugasundram Phenotypes for gene: PKHD1L1 were changed from Hearing loss to Deafness, autosomal recessive 124, OMIM:620794
Monogenic hearing loss v4.48 PKHD1L1 Achchuthan Shanmugasundram Publications for gene: PKHD1L1 were set to PMID: 38459354
Monogenic hearing loss v4.47 PKHD1L1 Achchuthan Shanmugasundram reviewed gene: PKHD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38459354; Phenotypes: Deafness, autosomal recessive 124, OMIM:620794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v5.20 ADGRL1 Achchuthan Shanmugasundram Classified gene: ADGRL1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.20 ADGRL1 Achchuthan Shanmugasundram Gene: adgrl1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.20 ADGRL1 Achchuthan Shanmugasundram Classified gene: ADGRL1 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.20 ADGRL1 Achchuthan Shanmugasundram Gene: adgrl1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.19 ADGRL1 Achchuthan Shanmugasundram gene: ADGRL1 was added
gene: ADGRL1 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: ADGRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADGRL1 were set to 35907405
Phenotypes for gene: ADGRL1 were set to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065
Review for gene: ADGRL1 was set to AMBER
Added comment: PMID:35907405 reported the identification of monoallelic ADGRL1 variants in ten individuals with a neurodevelopmental disorder comprising developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy. This includes a case that was previously reported in PMID:30504930. Epilepsy was reported in two of these cases. This gene has been associated with relevant phenotype in OMIM (MIM #620065), but not yet in Gene2Phenotype.
Sources: Literature
Intellectual disability v6.46 ADGRL1 Achchuthan Shanmugasundram Classified gene: ADGRL1 as Amber List (moderate evidence)
Intellectual disability v6.46 ADGRL1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (five unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.46 ADGRL1 Achchuthan Shanmugasundram Gene: adgrl1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.45 ADGRL1 Achchuthan Shanmugasundram Publications for gene: ADGRL1 were set to 30504930; 35907405
Intellectual disability v6.45 ADGRL1 Achchuthan Shanmugasundram Publications for gene: ADGRL1 were set to 35907405
Pulmonary arterial hypertension v3.5 CAPNS1 Dmitrijs Rots gene: CAPNS1 was added
gene: CAPNS1 was added to Pulmonary arterial hypertension. Sources: Literature
Mode of inheritance for gene: CAPNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPNS1 were set to PMID:38230350
Phenotypes for gene: CAPNS1 were set to pulmonary arterial hypertension
Review for gene: CAPNS1 was set to GREEN
Added comment: PMID:38230350 describes two independent families with three affected individuals with homozygous variants segregating in the family with the phenotype + some functional evidence.
Sources: Literature
Intellectual disability v6.44 ADGRL1 Achchuthan Shanmugasundram edited their review of gene: ADGRL1: Added comment: PMID:35907405 reported the identification of monoallelic ADGRL1 variants in ten individuals with a neurodevelopmental disorder comprising developmental delay, intellectual disability, attention deficit hyperactivity and autism spectrum disorders, and epilepsy. This includes a case that was previously reported in PMID:30504930. Mild/ moderate intellectual disability was reported in five of these ten cases.

This gene has been associated with relevant phenotype in OMIM (MIM #620065), but not yet in Gene2Phenotype.; Changed publications to: 30504930, 35907405
Intellectual disability v6.44 ADGRL1 Achchuthan Shanmugasundram Phenotypes for gene: ADGRL1 were changed from Developmental delay, behavioral abnormalities, and neuropsychiatric disorders to Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065
Intellectual disability v6.43 ADGRL1 Achchuthan Shanmugasundram Publications for gene: ADGRL1 were set to PubMed: 35907405
Intellectual disability v6.42 ADGRL1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: ADGRL1.
Intellectual disability v6.42 ADGRL1 Achchuthan Shanmugasundram reviewed gene: ADGRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35907405; Phenotypes: Developmental delay, behavioral abnormalities, and neuropsychiatric disorders, OMIM:620065; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v5.18 KCNB2 Achchuthan Shanmugasundram Classified gene: KCNB2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.18 KCNB2 Achchuthan Shanmugasundram Gene: kcnb2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.18 KCNB2 Achchuthan Shanmugasundram Classified gene: KCNB2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.18 KCNB2 Achchuthan Shanmugasundram Gene: kcnb2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.17 KCNB2 Achchuthan Shanmugasundram gene: KCNB2 was added
gene: KCNB2 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: KCNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNB2 were set to 38503299
Phenotypes for gene: KCNB2 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: KCNB2 was set to AMBER
Added comment: PMID:38503299 reported seven unrelated individuals with monoallelic KCNB2 variants and neurodevelopmental disorder, of which two of them had seizures.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Intellectual disability v6.42 KCNB2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Zornitza Stark, PMID:38503299 reported seven unrelated individuals with monoallelic KCNB2 variants and neurodevelopmental disorder, of which six of them had intellectual disability.; to: Comment on list classification: As reviewed by Zornitza Stark, PMID:38503299 reported seven unrelated individuals with monoallelic KCNB2 variants and neurodevelopmental disorder, of which six of them had intellectual disability.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Intellectual disability v6.42 KCNB2 Achchuthan Shanmugasundram Classified gene: KCNB2 as Amber List (moderate evidence)
Intellectual disability v6.42 KCNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, PMID:38503299 reported seven unrelated individuals with monoallelic KCNB2 variants and neurodevelopmental disorder, of which six of them had intellectual disability.
Intellectual disability v6.42 KCNB2 Achchuthan Shanmugasundram Gene: kcnb2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.41 KCNB2 Achchuthan Shanmugasundram Phenotypes for gene: KCNB2 were changed from neurodevelopmental disorder MONDO:0700092, KCNB2-related to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.40 KCNB2 Achchuthan Shanmugasundram edited their review of gene: KCNB2: Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071
Intellectual disability v6.40 KCNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: KCNB2.
Intellectual disability v6.40 KCNB2 Achchuthan Shanmugasundram reviewed gene: KCNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SASS6.
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Classified gene: SASS6 as Amber List (moderate evidence)
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Zornitza Stark, there are two additional unrelated cases reported with severe microcephaly (HC was beyond -4 SD in both cases). Hence, this gene can be promoted to green rating in the next GMS update.
Severe microcephaly v5.15 SASS6 Achchuthan Shanmugasundram Gene: sass6 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v5.14 SASS6 Achchuthan Shanmugasundram Publications for gene: SASS6 were set to 24951542; 30639237
Severe microcephaly v5.13 SASS6 Achchuthan Shanmugasundram Phenotypes for gene: SASS6 were changed from ?Microcephaly 14, primary, autosomal recessive, OMIM:616402 to Microcephaly 14, primary, autosomal recessive, OMIM:616402
Severe microcephaly v5.12 SASS6 Achchuthan Shanmugasundram reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 14, primary, autosomal recessive, OMIM:616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.47 GRXCR2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Sadaf Naz, one family from Pakistan was reported with homozygous c.714dupT (p.Gly239TrpfsTer74) variant, and one family and an unrelated individual were reported with homozygous c.251delC (p.Ile85SerfsTer33) variant. In addition, some functional evidence is available for these variants.

Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Sadaf Naz, one family from Pakistan was reported with homozygous c.714dupT (p.Gly239TrpfsTer74) variant, and one family and an unrelated individual from Cameroon were reported with homozygous c.251delC (p.Ile85SerfsTer33) variant. In addition, some functional evidence is available for these variants.

Hence, this gene can be promoted to green rating in the next GMS update.
Monogenic hearing loss v4.47 GRXCR2 Achchuthan Shanmugasundram Classified gene: GRXCR2 as Amber List (moderate evidence)
Monogenic hearing loss v4.47 GRXCR2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sadaf Naz, one family from Pakistan was reported with homozygous c.714dupT (p.Gly239TrpfsTer74) variant, and one family and an unrelated individual were reported with homozygous c.251delC (p.Ile85SerfsTer33) variant. In addition, some functional evidence is available for these variants.

Hence, this gene can be promoted to green rating in the next GMS update.
Monogenic hearing loss v4.47 GRXCR2 Achchuthan Shanmugasundram Gene: grxcr2 has been classified as Amber List (Moderate Evidence).
Parkinson Disease and Complex Parkinsonism v1.121 ARSA David Collier gene: ARSA was added
gene: ARSA was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list
Mode of inheritance for gene: ARSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARSA were set to PMID: 37381728 PMID: 31312839 PMID: 31312839
Penetrance for gene: ARSA were set to unknown
Review for gene: ARSA was set to AMBER
Added comment: Association bertween these gene and Parkinson's has been controversial, however a recent publication adds to the supportive evidence for this gene (PMID: 37381728). Gene for Metachromatic leukodystrophy (MIM 250100 AR)
Sources: Expert list
Monogenic hearing loss v4.46 GRXCR2 Achchuthan Shanmugasundram Publications for gene: GRXCR2 were set to
Monogenic hearing loss v4.45 GRXCR2 Achchuthan Shanmugasundram Phenotypes for gene: GRXCR2 were changed from ?Deafness, autosomal recessive 101, 615837 to ?Deafness, autosomal recessive 101, OMIM:615837
Monogenic hearing loss v4.44 GRXCR2 Achchuthan Shanmugasundram Mode of inheritance for gene: GRXCR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.44 GRXCR2 Achchuthan Shanmugasundram Mode of inheritance for gene: GRXCR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.43 GRXCR2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: GRXCR2.
Monogenic hearing loss v4.43 GRXCR2 Achchuthan Shanmugasundram reviewed gene: GRXCR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24619944, 33528103; Phenotypes: ?Deafness, autosomal recessive 101, OMIM:615837; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism v1.121 SYNJ1 David Collier reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 38853950 PMID: 36148638 PubMed: 23804563 PMID: 33841314 PubMed: 23804577 PubMed; Phenotypes: Early onset parkinsonism, Developmental and epileptic encephalopathy, Dystonia-parkinsonism accompanied by a frontal syndrome and oculomotor disturbances, Tonic-clonic seizures during childhood, severe intellectual disability, progressive parkinsonism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism v1.121 VPS13C David Collier reviewed gene: VPS13C: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34875562 PMID: 33579389 PMID: 33039764 PMID: 30452786 PMID: 28862745 PMID: 28137300 PMID: 26942284; Phenotypes: Dementia with Lewy bodies, Early-onset autosomal recessive Parkinson's disease, Early onset Parkinsonism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism v1.121 ATP13A2 David Collier reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16964263 PMID: 17485642 PMID: 20310007; Phenotypes: Kufor-Rakeb syndrome, spastic paraplegia-78 (SPG78), juvenile-onset atypical Parkinson disease, supranuclear gaze palsy, spasticity, dementia, spastic paraplegia, brain iron accumulation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram edited their review of gene: OFD1: Changed rating: AMBER; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: Although renal cysts are present in around half of the cases reported in PMID:11179005 (and associated with Orofaciodigital syndrome I, MIM #311200), they are syndromic cases./

As reviewed by Nour Elkhateeb, female patient reported in PMID:10910455 had renal cysts are the only apparent manifestation.

Hence, this gene can be promoted from red to amber with the current evidence.; to: Comment on list classification: Although renal cysts are present in around half of the cases reported in PMID:11179005 (and associated with Orofaciodigital syndrome I, MIM #311200), they are syndromic.

As reviewed by Nour Elkhateeb, female patient reported in PMID:10910455 had renal cysts are the only apparent manifestation.

Hence, this gene can be promoted from red to amber with the current evidence.
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram Classified gene: OFD1 as Amber List (moderate evidence)
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: Although renal cysts are present in around half of the cases reported in PMID:11179005 (and associated with Orofaciodigital syndrome I, MIM #311200), they are syndromic cases./

As reviewed by Nour Elkhateeb, female patient reported in PMID:10910455 had renal cysts are the only apparent manifestation.

Hence, this gene can be promoted from red to amber with the current evidence.
Cystic kidney disease v5.8 OFD1 Achchuthan Shanmugasundram Gene: ofd1 has been classified as Amber List (Moderate Evidence).
Primary ciliary disorders v1.42 WFDC2 Max Xiaohang Zhao gene: WFDC2 was added
gene: WFDC2 was added to Primary ciliary disorders. Sources: Literature
Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WFDC2 were set to 38626355
Phenotypes for gene: WFDC2 were set to Nasal Polyposis; Bronchiectasis
Penetrance for gene: WFDC2 were set to unknown
Review for gene: WFDC2 was set to RED
gene: WFDC2 was marked as current diagnostic
Added comment: Sources: Literature
Cystic kidney disease v5.7 OFD1 Achchuthan Shanmugasundram Publications for gene: OFD1 were set to
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There are four unrelated families and functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Classified gene: USP14 as Amber List (moderate evidence)
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Gene: usp14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.22 USP14 Achchuthan Shanmugasundram Publications for gene: USP14 were set to 38469793
Fetal anomalies v4.21 USP14 Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from Syndromic disease MONDO:0002254, USP14-related to syndromic disease, MONDO:0002254; distal arthrogryposis, MONDO:0019942
Fetal anomalies v4.20 USP14 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: USP14.
Fetal anomalies v4.20 USP14 Achchuthan Shanmugasundram reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 35066879, 38469793; Phenotypes: syndromic disease, MONDO:0002254, distal arthrogryposis, MONDO:0019942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Classified gene: MDFIC as Amber List (moderate evidence)
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Gene: mdfic has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.19 MDFIC Achchuthan Shanmugasundram Phenotypes for gene: MDFIC were changed from conducting lymphatic anomaly with lymphedema to Lymphatic malformation 12, OMIM:620014
Fetal anomalies v4.18 MDFIC Achchuthan Shanmugasundram Publications for gene: MDFIC were set to PMID: 35235341
Fetal anomalies v4.17 MDFIC Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MDFIC.
Fetal anomalies v4.17 MDFIC Achchuthan Shanmugasundram reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 35235341; Phenotypes: Lymphatic malformation 12, OMIM:620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.17 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: KCNK9.
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Classified gene: KCNT1 as Amber List (moderate evidence)
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, PMID:36307859 reported a foetus with increased nuchal translucency and bilateral choroid plexus cysts. Hence, the rating can be updated from red to amber.
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Gene: kcnt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.16 KCNT1 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Classified gene: KCNK9 as Amber List (moderate evidence)
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are several unrelated cases reported with KCNK9 variants and Birk-Barel syndrome (MIM #612292). Clinical presentations include motor and speech delay, impaired intellectual development, early feeding difficulties, muscular hypotonia, behavioral abnormalities and dysmorphic features.

In addition, this gene has also been associated with phenotypes on the DD panel of Gene2Phenotype resource with 'limited' rating.

As reviewed by Sarah Graham, a foetus has also been reported with KCNK9 variant and with phenotypes consistent with this disorder.

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Gene: kcnk9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.14 KCNK9 Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, OMIM:612292
Fetal anomalies v4.13 KCNK9 Achchuthan Shanmugasundram Publications for gene: KCNK9 were set to PMID: 36307859
Fetal anomalies v4.12 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: KCNK9.
Fetal anomalies v4.12 KCNK9 Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307859; Phenotypes: Birk-Barel syndrome, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: GNB2.
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Classified gene: GNB2 as Amber List (moderate evidence)
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, monoallelic GNB2 variants are associated with a neurodevelopmental disorder with features including dysmorphic facial features, cardiac and renal abnormalities.

This gene has been associated with phenotypes in OMIM (MIM #619503) and DD panel of Gene2Phenotype resource (with 'Definitive' rating, previously known as 'confirmed').

A foetus was also reported with phenotypes consistent with this gene.

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.11 GNB2 Achchuthan Shanmugasundram Phenotypes for gene: GNB2 were changed from to Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503
Fetal anomalies v4.10 GNB2 Achchuthan Shanmugasundram Publications for gene: GNB2 were set to 36658419
Fetal anomalies v4.9 GNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: GNB2.
Fetal anomalies v4.9 GNB2 Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 34183358, 36658419; Phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.; to: Comment on list classification: As reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence)
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Added comment: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence).
Fetal anomalies v4.8 CLCN5 Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence)
Fetal anomalies v4.8 CLCN5 Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence).
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Classified gene: ARV1 as Amber List (moderate evidence)
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there are four cases from three different families (including two foetuses from a single family) reported with biallelic ARV1 variants and prenatal abnormalities. However, it should be noted that multiple major structural anomalies were not reported in these cases. Hence, this gene should be rated amber with the current evidence.
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Gene: arv1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.6 ARV1 Achchuthan Shanmugasundram Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, OMIM:617020
Fetal anomalies v4.5 ARV1 Achchuthan Shanmugasundram Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Fetal anomalies v4.4 ARV1 Achchuthan Shanmugasundram reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34296759, 36307859; Phenotypes: Developmental and epileptic encephalopathy 38, OMIM:617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v5.6 CLCN5 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: CLCN5.
Tag Q2_24_NHS_review tag was added to gene: CLCN5.
Cystic kidney disease v5.6 CLCN5 Sarah Leigh Publications for gene: CLCN5 were set to 7922301; 37641036
Cystic kidney disease v5.5 CLCN5 Sarah Leigh reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: 8559248, 9259268, 9187673, 9602200, 14569459, 16041495, 16247550, 19673950; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.4 CLCN5 Sarah Leigh Phenotypes for gene: CLCN5 were changed from to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Cystic kidney disease v5.5 CLCN5 Sarah Leigh Phenotypes for gene: CLCN5 were changed from cystic kdiney disease; cortical cysts; medullary cysts; nephrocalcinosis; low molecular weight proteinuria; hypercalciuria to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Cystic kidney disease v5.4 CLCN5 Sarah Leigh Classified gene: CLCN5 as Amber List (moderate evidence)
Cystic kidney disease v5.4 CLCN5 Sarah Leigh Gene: clcn5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.40 SOX9 Sarah Leigh Tag Q2_24_demote_amber tag was added to gene: SOX9.
Tag Q2_24_NHS_review tag was added to gene: SOX9.
Intellectual disability v6.40 SOX9 Sarah Leigh reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v6.40 SOX9 Sarah Leigh Phenotypes for gene: SOX9 were changed from Campomelic dysplasia with autosomal sex reversal, 114290; Acampomelic campomelic dysplasia, 114290; Campomelic dysplasia, 114290; intellectual disability to Campomelic dysplasia with autosomal sex reversal, OMIM:114290; Acampomelic campomelic dysplasia, OMIM:114290; Campomelic dysplasia, OMIM:114290; campomelic dysplasia, MONDO:0007251
DDG2P v4.6 AFF2 Sarah Leigh Publications for gene: AFF2 were set to 8334699; 8023854; 21739600; 9299237; 11171404; 11923441; 19136466; 2356291
Intellectual disability v6.39 AFF2 Sarah Leigh Publications for gene: AFF2 were set to 25529582; 24896178; 8334699; 8023854; 21739600; 9299237; 11171404; 11923441; 19136466; 2356291
DDG2P v4.5 AFF2 Sarah Leigh edited their review of gene: AFF2: Added comment: Intellectual developmental disorder, X-linked 109 (OMIM:3095480, is also associated with deletions of AFF2. Stettner et al. (PMID: 21739600) describe 2 brothers with OMIM:3095480, who have a 121 to 145-kb intragenic deletion within AFF2, while Sahoo et al (PMID: 22065534) report two unrelated males with OMIM:3095480; Patient 1 has a 240 kb intragenic deletion resulting the loss of exons 2-4 of AFF2 and Patient 2 has a 499 kb deletion that removes the exons 1-2.; Changed publications to: 21739600, 22065534
Intellectual disability v6.38 AFF2 Sarah Leigh edited their review of gene: AFF2: Added comment: Intellectual developmental disorder, X-linked 109 (OMIM:3095480, is also associated with deletions of AFF2. Stettner et al. (PMID: 21739600) describe 2 brothers with OMIM:3095480, who have a 121 to 145-kb intragenic deletion within AFF2, while Sahoo et al (PMID: 22065534) report two unrelated males with OMIM:3095480; Patient 1 has a 240 kb intragenic deletion resulting the loss of exons 2-4 of AFF2 and Patient 2 has a 499 kb deletion that removes the exons 1-2.; Changed publications to: 21739600, 22065534
Hereditary neuropathy v1.480 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Green List (high evidence)
Hereditary neuropathy v1.480 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Green List (High Evidence).
Hereditary neuropathy v1.479 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green was removed from STR: ATXN7_CAG.
Tag Q2_24_expert_review was removed from STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v5.7 ATXN7_CAG Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7, OMIM:164500 to Spinocerebellar ataxia 7, OMIM:164500; autosomal dominant cerebellar ataxia type II, MONDO:0016163
Hereditary neuropathy v1.479 ATXN7_CAG Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Spinocerebellar ataxia 7, OMIM:164500 to Spinocerebellar ataxia 7, OMIM:164500; autosomal dominant cerebellar ataxia type II, MONDO:0016163
Adult onset neurodegenerative disorder v5.6 ATXN7_CAG Sarah Leigh Tag watchlist was removed from STR: ATXN7_CAG.
Tag Q2_24_promote_green tag was added to STR: ATXN7_CAG.
Tag Q2_24_expert_review tag was added to STR: ATXN7_CAG.
Hereditary neuropathy v1.478 ATXN7_CAG Sarah Leigh Tag Q2_24_promote_green tag was added to STR: ATXN7_CAG.
Tag Q2_24_expert_review tag was added to STR: ATXN7_CAG.
Retinal disorders v5.15 ATXN7_CAG Sarah Leigh Tag STR tag was added to STR: ATXN7_CAG.
Tag Q2_24_promote_green tag was added to STR: ATXN7_CAG.
Tag Q2_24_NHS_review tag was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v5.6 ATXN7_CAG Sarah Leigh reviewed STR: ATXN7_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy v1.478 ATXN7_CAG Sarah Leigh reviewed STR: ATXN7_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v5.15 ATXN7_CAG Sarah Leigh reviewed STR: ATXN7_CAG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v5.15 ATXN7_CAG Sarah Leigh Publications for STR: ATXN7_CAG were set to 27632585
Retinal disorders v5.14 ATXN7_CAG Sarah Leigh Classified STR: ATXN7_CAG as Amber List (moderate evidence)
Retinal disorders v5.14 ATXN7_CAG Sarah Leigh Str: atxn7_cag has been classified as Amber List (Moderate Evidence).
Retinal disorders v5.13 ATXN7_CAG Sarah Leigh Phenotypes for STR: ATXN7_CAG were changed from Maculopaty; Cone-Rod Dystrophy to Spinocerebellar ataxia 7, OMIM:164500; autosomal dominant cerebellar ataxia type II, MONDO:0016163
Retinal disorders v5.12 ATXN7_CAG Sarah Leigh Publications for STR: ATXN7_CAG were set to PMID: 27632585,
Adult onset neurodegenerative disorder v5.6 ATXN2_CAG Sarah Leigh Tag watchlist was removed from STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v5.6 ATXN2_CAG Sarah Leigh Tag Q2_24_promote_green tag was added to STR: ATXN2_CAG.
Tag Q2_24_NHS_review tag was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v5.6 ATXN2_CAG Sarah Leigh changed review comment from: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090)(PMID: 20740007;21479228;21537950;21562247;21610160).; to: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090), which is an adult onset neurodegenerative disorder (PMID: 20740007;21479228;21537950;21562247;21610160).
Adult onset neurodegenerative disorder v5.6 ATXN2_CAG Sarah Leigh edited their review of STR: ATXN2_CAG: Added comment: Numerous instances of ATXN2_CAG repeat expansions have been reported in the literature associated with Amyotrophic lateral sclerosis, susceptibility to, 13 (OMIM:183090)(PMID: 20740007;21479228;21537950;21562247;21610160).; Changed rating: GREEN
Adult onset neurodegenerative disorder v5.6 ATXN2_CAG Sarah Leigh Deleted their comment
Adult onset neurodegenerative disorder v5.6 ATXN2_CAG Sarah Leigh Publications for STR: ATXN2_CAG were set to 20740007; 21479228; 21537950; 21562247
Adult onset neurodegenerative disorder v5.5 ATXN2_CAG Sarah Leigh Added comment: Comment on phenotypes: Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090;spinocerebellar ataxia type 2,
MONDO:0008458; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Adult onset neurodegenerative disorder v5.5 ATXN2_CAG Sarah Leigh Phenotypes for STR: ATXN2_CAG were changed from Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 to Spinocerebellar ataxia 2, OMIM:183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090; {Parkinson disease, late-onset, susceptibility to}, OMIM:168600
Adult onset neurodegenerative disorder v5.4 ATXN2_CAG Sarah Leigh Publications for STR: ATXN2_CAG were set to
Monogenic hearing loss v4.43 PLXNB2 Achchuthan Shanmugasundram Deleted their comment
Monogenic hearing loss v4.43 PLXNB2 Achchuthan Shanmugasundram Classified gene: PLXNB2 as Amber List (moderate evidence)
Monogenic hearing loss v4.43 PLXNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:38458752, there are seven patients from five different families (from a total of eight patients from six families) reported with sensorineural hearing loss. Hence, this gene can be promoted to green rating in the next GMS update.
Monogenic hearing loss v4.43 PLXNB2 Achchuthan Shanmugasundram Gene: plxnb2 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.43 PLXNB2 Achchuthan Shanmugasundram Classified gene: PLXNB2 as Amber List (moderate evidence)
Monogenic hearing loss v4.43 PLXNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:38458752, there are seven patients from five different families (from a total of eight patients from six families) reported with sensorineural hearing loss. Hence, this gene can be promoted to green rating in the next GMS update.
Monogenic hearing loss v4.43 PLXNB2 Achchuthan Shanmugasundram Gene: plxnb2 has been classified as Amber List (Moderate Evidence).
Monogenic hearing loss v4.42 PLXNB2 Achchuthan Shanmugasundram reviewed gene: PLXNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38458752; Phenotypes: amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss v4.42 PLXNB2 Achchuthan Shanmugasundram Deleted their review
Monogenic hearing loss v4.42 PLXNB2 Achchuthan Shanmugasundram Entity copied from Intellectual disability v6.38
Monogenic hearing loss v4.42 PLXNB2 Achchuthan Shanmugasundram gene: PLXNB2 was added
gene: PLXNB2 was added to Monogenic hearing loss. Sources: Expert Review Amber,Literature
Q2_24_promote_green tags were added to gene: PLXNB2.
Mode of inheritance for gene: PLXNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLXNB2 were set to 38458752
Phenotypes for gene: PLXNB2 were set to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Intellectual disability v6.38 PLXNB2 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.38 PLXNB2 Achchuthan Shanmugasundram Classified gene: PLXNB2 as Amber List (moderate evidence)
Intellectual disability v6.38 PLXNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are six patients from four different families (from a total of eight patients from six families) reported with intellectual disability. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.38 PLXNB2 Achchuthan Shanmugasundram Gene: plxnb2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.38 PLXNB2 Achchuthan Shanmugasundram Classified gene: PLXNB2 as Amber List (moderate evidence)
Intellectual disability v6.38 PLXNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are six patients from four different families (from a total of eight patients from six families) reported with intellectual disability. Hence, this gene can be promoted to green rating in the next GMS update.
Intellectual disability v6.38 PLXNB2 Achchuthan Shanmugasundram Gene: plxnb2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.37 PLXNB2 Achchuthan Shanmugasundram Phenotypes for gene: PLXNB2 were changed from amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071 to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Intellectual disability v6.37 PLXNB2 Achchuthan Shanmugasundram Phenotypes for gene: PLXNB2 were changed from amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071 to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Intellectual disability v6.37 PLXNB2 Achchuthan Shanmugasundram Phenotypes for gene: PLXNB2 were changed from amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071 to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Intellectual disability v6.37 PLXNB2 Achchuthan Shanmugasundram Phenotypes for gene: PLXNB2 were changed from amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071 to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Intellectual disability v6.37 PLXNB2 Achchuthan Shanmugasundram Phenotypes for gene: PLXNB2 were changed from Syndromic disease MONDO:0002254, PLXNB2 -related to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Intellectual disability v6.36 PLXNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PLXNB2.
Intellectual disability v6.36 PLXNB2 Achchuthan Shanmugasundram reviewed gene: PLXNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38458752; Phenotypes: amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.6 MT-TT Sarah Leigh Classified gene: MT-TT as No list
Childhood onset dystonia, chorea or related movement disorder v4.6 MT-TT Sarah Leigh Added comment: Comment on list classification: On 18 Aug 2020, the status of MT-TT on the Childhood onset dystonia, chorea or related movement disorder panel was changed from Red to Grey (curator removed), based on a request from NHS England that this Mitochondrial gene should be removed from the panel. Would it be relevant to promote MT-TT to Green, now that there is further evidence to support the association between MT-TT variants and human disease?
Childhood onset dystonia, chorea or related movement disorder v4.6 MT-TT Sarah Leigh Gene: mt-tt has been removed from the panel.
Childhood onset dystonia, chorea or related movement disorder v4.5 MT-TT Sarah Leigh reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Childhood onset dystonia, chorea or related movement disorder v4.5 MT-TT Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MT-TT.
Tag Q2_24_expert_review tag was added to gene: MT-TT.
Amelogenesis imperfecta v3.6 PLXNB2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are seven patients from five different families (from a total of eight patients from six families) reported with amelogenesis imperfect. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are seven patients from five different families (from a total of eight patients from six families) reported with amelogenesis imperfecta. Hence, this gene can be promoted to green rating in the next GMS update.
Amelogenesis imperfecta v3.6 PLXNB2 Achchuthan Shanmugasundram Classified gene: PLXNB2 as Amber List (moderate evidence)
Amelogenesis imperfecta v3.6 PLXNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reported in PMID:38458752 and reviewed by Claire Smith, there are seven patients from five different families (from a total of eight patients from six families) reported with amelogenesis imperfect. Hence, this gene can be promoted to green rating in the next GMS update.
Amelogenesis imperfecta v3.6 PLXNB2 Achchuthan Shanmugasundram Gene: plxnb2 has been classified as Amber List (Moderate Evidence).
Amelogenesis imperfecta v3.5 PLXNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PLXNB2.
Amelogenesis imperfecta v3.5 PLXNB2 Achchuthan Shanmugasundram Phenotypes for gene: PLXNB2 were changed from Amelogenesis imperfecta; sensorineural hearing loss to amelogenesis imperfecta, MONDO:0019507; sensorineural hearing loss disorder, MONDO:0020678; intellectual disability, MONDO:0001071
Amelogenesis imperfecta v3.4 PLXNB2 Achchuthan Shanmugasundram Publications for gene: PLXNB2 were set to PMID: 38458752
Amelogenesis imperfecta v3.3 PLXNB2 Achchuthan Shanmugasundram reviewed gene: PLXNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38458752; Phenotypes: amelogenesis imperfecta, MONDO:0019507, sensorineural hearing loss disorder, MONDO:0020678, intellectual disability, MONDO:0001071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.5 MT-TT Sarah Leigh Publications for gene: MT-TT were set to
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Deleted their comment
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Deleted their comment
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.10 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.9 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.8 CAMK2D Achchuthan Shanmugasundram changed review comment from: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (with four of six DCM patients with age below 12 years).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature; to: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (four of six DCM patients with age below 12 years).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Paediatric or syndromic cardiomyopathy v4.8 CAMK2D Achchuthan Shanmugasundram gene: CAMK2D was added
gene: CAMK2D was added to Paediatric or syndromic cardiomyopathy. Sources: Literature
Q2_24_promote_green tags were added to gene: CAMK2D.
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to neurodevelopmental disorder, MONDO:0700092; dilated cardiomyopathy, MONDO:0005021
Mode of pathogenicity for gene: CAMK2D was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: CAMK2D was set to GREEN
Added comment: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (with four of six DCM patients with age below 12 years).

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Early onset or syndromic epilepsy v5.16 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.16 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.16 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.16 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.36 CAMK2D Achchuthan Shanmugasundram Deleted their comment
Early onset or syndromic epilepsy v5.16 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.16 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.15 CAMK2D Achchuthan Shanmugasundram gene: CAMK2D was added
gene: CAMK2D was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027
Review for gene: CAMK2D was set to AMBER
Added comment: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Epilepsy was reported as one of the clinical manifestations in 3 out of eight reported cases.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Intellectual disability v6.36 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Intellectual disability v6.36 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.36 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.36 CAMK2D Achchuthan Shanmugasundram Classified gene: CAMK2D as Amber List (moderate evidence)
Intellectual disability v6.36 CAMK2D Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.36 CAMK2D Achchuthan Shanmugasundram Gene: camk2d has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.35 CAMK2D Achchuthan Shanmugasundram edited their review of gene: CAMK2D: Changed rating: GREEN
Intellectual disability v6.35 CAMK2D Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: CAMK2D.
Intellectual disability v6.35 CAMK2D Achchuthan Shanmugasundram gene: CAMK2D was added
gene: CAMK2D was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAMK2D were set to 38272033
Phenotypes for gene: CAMK2D were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Added comment: PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

ID was reported in all seven individuals tested for ID, where ID was mild in 2, moderate to severe in 1, severe in 3 and profound in 1 patient.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Intellectual disability v6.34 EZH1 Achchuthan Shanmugasundram Classified gene: EZH1 as Amber List (moderate evidence)
Intellectual disability v6.34 EZH1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of both monoallelic and biallelic EZH1 variants to intellectual disability with green rating. Hence, this gene should be promoted to green in the next GMS update.
Intellectual disability v6.34 EZH1 Achchuthan Shanmugasundram Gene: ezh1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.33 EZH1 Achchuthan Shanmugasundram changed review comment from: PMID:37433783 reported 19 individuals from 14 unrelated families with a neurodevelopmental disorder manifested early in life as global motor, speech and cognitive delay leading to intellectual disability, usually non-progressive and co-occurring with dysmorphic facial features. Nine individuals from seven families were identified with monoallelic variants and ten individuals from seven families were identified with biallelic variants.

This gene has been associated with relevant phenotypes in Gene2Phenotype (both monoallelic and biallelic disorders rated 'moderate' on the DD panel), but not yet in OMIM.
Sources: Literature; to: PMID:37433783 reported 19 individuals from 14 unrelated families with a neurodevelopmental disorder manifested early in life as global motor, speech and cognitive delay leading to intellectual disability, usually non-progressive and co-occurring with dysmorphic facial features. Nine individuals from seven families were identified with monoallelic variants and ten individuals from seven families were identified with biallelic variants.

Functional studies have shown that some missense EZH1 variants lead to gain of function with increased methyltransferase activity and biallelic variants impair EZH1 expression leading to loss of function effects.

This gene has been associated with relevant phenotypes in Gene2Phenotype (both monoallelic and biallelic disorders rated 'moderate' on the DD panel), but not yet in OMIM.
Sources: Literature
Intellectual disability v6.33 EZH1 Achchuthan Shanmugasundram gene: EZH1 was added
gene: EZH1 was added to Intellectual disability. Sources: Literature
Q2_24_promote_green tags were added to gene: EZH1.
Mode of inheritance for gene: EZH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EZH1 were set to 37433783
Phenotypes for gene: EZH1 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Mode of pathogenicity for gene: EZH1 was set to Other
Review for gene: EZH1 was set to GREEN
Added comment: PMID:37433783 reported 19 individuals from 14 unrelated families with a neurodevelopmental disorder manifested early in life as global motor, speech and cognitive delay leading to intellectual disability, usually non-progressive and co-occurring with dysmorphic facial features. Nine individuals from seven families were identified with monoallelic variants and ten individuals from seven families were identified with biallelic variants.

This gene has been associated with relevant phenotypes in Gene2Phenotype (both monoallelic and biallelic disorders rated 'moderate' on the DD panel), but not yet in OMIM.
Sources: Literature
Intellectual disability v6.32 YWHAE Achchuthan Shanmugasundram changed review comment from: PMID:36999555 reported three individuals with sequence variants in YWHAE gene and six individuals with deletion variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1). In addition, five patients were previously reported with deletion variants. Only one of the three individuals with sequence variants had mild intellectual disability, while five of 12 patients with deletion variants had mild to severe intellectual disability.
Sources: Literature; to: PMID:36999555 reported three individuals with sequence variants in YWHAE gene and six individuals with deletion variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1). In addition, five patients were previously reported with deletion variants. Only one of three individuals with sequence variants had mild intellectual disability, while five of 12 patients with deletion variants had mild to severe intellectual disability.
Sources: Literature
Intellectual disability v6.32 YWHAE Achchuthan Shanmugasundram gene: YWHAE was added
gene: YWHAE was added to Intellectual disability. Sources: Literature
cnv tags were added to gene: YWHAE.
Mode of inheritance for gene: YWHAE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YWHAE were set to 36999555
Phenotypes for gene: YWHAE were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: YWHAE was set to RED
Added comment: PMID:36999555 reported three individuals with sequence variants in YWHAE gene and six individuals with deletion variants (1 intragenic deletion and 5 large deletions encompassing YWHEA but not PAFAH1B1). In addition, five patients were previously reported with deletion variants. Only one of the three individuals with sequence variants had mild intellectual disability, while five of 12 patients with deletion variants had mild to severe intellectual disability.
Sources: Literature
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.31 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.30 STX1A Achchuthan Shanmugasundram Classified gene: STX1A as Amber List (moderate evidence)
Intellectual disability v6.30 STX1A Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated cases reported with monoallelic variants and two siblings reported with biallelic variants. Hence, the MOI was set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'. The rating should be updated to green in the next GMS update.
Intellectual disability v6.30 STX1A Achchuthan Shanmugasundram Gene: stx1a has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.29 STX1A Achchuthan Shanmugasundram gene: STX1A was added
gene: STX1A was added to Intellectual disability. Sources: Literature
Q2_24_promote_green tags were added to gene: STX1A.
Mode of inheritance for gene: STX1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STX1A were set to 36564538
Phenotypes for gene: STX1A were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Review for gene: STX1A was set to GREEN
Added comment: PMID:36564538 reported the identification of monoallelic STX1A variants in six unrelated individuals (five of them de novo and one unknown) and biallelic variants in two related individuals. All of them presented with a neurodevelopmental disorder and had intellectual disability (Both homozygous individuals had moderate ID, three heterozygous individuals had severe ID. one had profound ID and two had moderate ID).

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but has not yet been associated with phenotypes in OMIM.
Sources: Literature
Monogenic short stature v0.180 SLF2 Achchuthan Shanmugasundram Classified gene: SLF2 as Amber List (moderate evidence)
Monogenic short stature v0.180 SLF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of this gene with green rating in the next GMS update.
Monogenic short stature v0.180 SLF2 Achchuthan Shanmugasundram Gene: slf2 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v5.12 SLF2 Achchuthan Shanmugasundram Classified gene: SLF2 as Amber List (moderate evidence)
Severe microcephaly v5.12 SLF2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases) for the association of this gene with green rating in the next GMS update.
Severe microcephaly v5.12 SLF2 Achchuthan Shanmugasundram Gene: slf2 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v0.179 SLF2 Achchuthan Shanmugasundram gene: SLF2 was added
gene: SLF2 was added to Monogenic short stature. Sources: Literature
Q2_24_promote_green tags were added to gene: SLF2.
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Atelis syndrome 1, OMIM:620184
Review for gene: SLF2 was set to GREEN
Added comment: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Severe microcephaly v5.11 SLF2 Achchuthan Shanmugasundram gene: SLF2 was added
gene: SLF2 was added to Severe microcephaly. Sources: Literature
Q2_24_promote_green tags were added to gene: SLF2.
Mode of inheritance for gene: SLF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLF2 were set to 36333305
Phenotypes for gene: SLF2 were set to Atelis syndrome 1, OMIM:620184
Review for gene: SLF2 was set to GREEN
Added comment: PMID:36333305 reported the identification of biallelic loss-of-function SLF2 variants in seven individuals from six different families with a chromosome breakage disorder. All these individuals had developmental delay, markedly Severe microcephaly and reduction in height. Functional data including zebrafish model is also available to support disease association.

This gene has been associated with relevant phenotype in both OMIM (MIM #620184) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Monogenic short stature v0.178 SMC5 Achchuthan Shanmugasundram Classified gene: SMC5 as Amber List (moderate evidence)
Monogenic short stature v0.178 SMC5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for the association of this gene with green rating in the next GMS update.
Monogenic short stature v0.178 SMC5 Achchuthan Shanmugasundram Gene: smc5 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v5.10 SMC5 Achchuthan Shanmugasundram Classified gene: SMC5 as Amber List (moderate evidence)
Severe microcephaly v5.10 SMC5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (three unrelated cases) for the association of this gene with green rating in the next GMS update.
Severe microcephaly v5.10 SMC5 Achchuthan Shanmugasundram Gene: smc5 has been classified as Amber List (Moderate Evidence).
Monogenic short stature v0.177 SMC5 Achchuthan Shanmugasundram gene: SMC5 was added
gene: SMC5 was added to Monogenic short stature. Sources: Literature
Q2_24_promote_green tags were added to gene: SMC5.
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Atelis syndrome 2, OMIM:620185
Review for gene: SMC5 was set to GREEN
Added comment: PMID:36333305 reported four individuals from three families with a chromosome breakage disorder and biallelic SMC5 variants. Three individuals from two families were identified with the same homozygous missense variant (p.His990Asp), while the other individual had compound heterozygous variants (p.Arg372del & p.Arg425Ter). All four patients presented with markedly severe microcephaly and reduction in height.

Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect.

This gene has been associated with relevant phenotype in both OMIM (MIM #620185) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Severe microcephaly v5.9 SMC5 Achchuthan Shanmugasundram gene: SMC5 was added
gene: SMC5 was added to Severe microcephaly. Sources: Literature
Q2_24_promote_green tags were added to gene: SMC5.
Mode of inheritance for gene: SMC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMC5 were set to 36333305
Phenotypes for gene: SMC5 were set to Atelis syndrome 2, OMIM:620185
Review for gene: SMC5 was set to GREEN
Added comment: PMID:36333305 reported four individuals from three families with a chromosome breakage disorder and biallelic SMC5 variants. Three individuals from two families were identified with the same homozygous missense variant (p.His990Asp), while the other individual had compound heterozygous variants (p.Arg372del & p.Arg425Ter). All four patients presented with markedly severe microcephaly and reduction in height.

Evidence for functional impact of the variant was limited. However, zebrafish model recapitulated the phenotype and was not rescued by the introduction of this variant, arguing for functional effect.

This gene has been associated with relevant phenotype in both OMIM (MIM #620185) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Sources: Literature
Intellectual disability v6.28 WDR5 Achchuthan Shanmugasundram Classified gene: WDR5 as Amber List (moderate evidence)
Intellectual disability v6.28 WDR5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Intellectual disability v6.28 WDR5 Achchuthan Shanmugasundram Gene: wdr5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.28 WDR5 Achchuthan Shanmugasundram Classified gene: WDR5 as Amber List (moderate evidence)
Intellectual disability v6.28 WDR5 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the association of this gene with green rating in the next GMS update.
Intellectual disability v6.28 WDR5 Achchuthan Shanmugasundram Gene: wdr5 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.27 WDR5 Achchuthan Shanmugasundram gene: WDR5 was added
gene: WDR5 was added to Intellectual disability. Sources: Literature
Q2_24_promote_green tags were added to gene: WDR5.
Mode of inheritance for gene: WDR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR5 were set to 36408368
Phenotypes for gene: WDR5 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Mode of pathogenicity for gene: WDR5 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: WDR5 was set to GREEN
Added comment: PMID:36408368 reported the identification of six different de novo missense variants in 11 affected individuals with a neurodevelopmental disorder with a broad spectrum of additional features, including epilepsy, aberrant growth parameters, skeletal and cardiac abnormalities. 9 of 11 probands have intellectual disability (five with moderate ID, three with mild ID and one with borderline ID).

In vivo and in vitro functional studies suggested that loss-of-function is not the mechanism of disease. However, the mechanism of disease is yet to be established.

This gene has been associated with relevant phenotype in Gene2Phenotype (with 'moderate' rating on the DD panel), but not associated with phenotypes in OMIM.
Sources: Literature
Likely inborn error of metabolism v5.22 CREB3L3 Achchuthan Shanmugasundram Deleted their comment
Likely inborn error of metabolism v5.17 ARSG Achchuthan Shanmugasundram Classified gene: ARSG as Amber List (moderate evidence)
Likely inborn error of metabolism v5.17 ARSG Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be rated green as it is green on 'Lysosomal storage disorder' panel (https://panelapp.genomicsengland.co.uk/panels/529/gene/ARSG/).
Likely inborn error of metabolism v5.15 ARSG Achchuthan Shanmugasundram Phenotypes for gene: ARSG were changed from Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141 to Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141
Likely inborn error of metabolism v5.14 ARSG Achchuthan Shanmugasundram Publications for gene: ARSG were set to 26975023; 20679209; 25452429; 33300174
Likely inborn error of metabolism v5.13 ARSG Achchuthan Shanmugasundram Mode of inheritance for gene: ARSG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.12 ARSG Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: ARSG.
Likely inborn error of metabolism v5.12 ARSG Achchuthan Shanmugasundram reviewed gene: ARSG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Usher syndrome, type IV, OMIM:618144; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.12 CREB3L3 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: CREB3L3.
Likely inborn error of metabolism v5.12 CREB3L3 Achchuthan Shanmugasundram Classified gene: CREB3L3 as Amber List (moderate evidence)
Likely inborn error of metabolism v5.12 CREB3L3 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be added with green rating on this panel as this gene has been rated green on 'Familial chylomicronaemia syndrome (FCS)' panel (https://panelapp.genomicsengland.co.uk/panels/527/gene/CREB3L3/).
Likely inborn error of metabolism v5.12 CREB3L3 Achchuthan Shanmugasundram Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v5.11 CREB3L3 Achchuthan Shanmugasundram Classified gene: CREB3L3 as Amber List (moderate evidence)
Likely inborn error of metabolism v5.11 CREB3L3 Achchuthan Shanmugasundram Added comment: Comment on list classification: This gene should be added with green rating on this panel as this gene has been rated green on 'Familial chylomicronaemia syndrome (FCS)' panel (https://panelapp.genomicsengland.co.uk/panels/527/gene/CREB3L3/).
Likely inborn error of metabolism v5.11 CREB3L3 Achchuthan Shanmugasundram Gene: creb3l3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v5.10 CREB3L3 Achchuthan Shanmugasundram Entity copied from Familial chylomicronaemia syndrome (FCS) v3.3
Likely inborn error of metabolism v5.10 CREB3L3 Achchuthan Shanmugasundram gene: CREB3L3 was added
gene: CREB3L3 was added to Likely inborn error of metabolism - targeted testing not possible. Sources: Expert Review Green,South West GLH,NHS GMS
Mode of inheritance for gene: CREB3L3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CREB3L3 were set to 29954705; 21666694; 26427795; 22135386
Phenotypes for gene: CREB3L3 were set to Hypertriglyceridemia 2, OMIM:619324; Hypertriglyceridemia (disease) MONDO:0005347
Likely inborn error of metabolism v5.9 PIGW Achchuthan Shanmugasundram Classified gene: PIGW as Amber List (moderate evidence)
Likely inborn error of metabolism v5.9 PIGW Achchuthan Shanmugasundram Gene: pigw has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v5.9 PIGW Achchuthan Shanmugasundram Classified gene: PIGW as Amber List (moderate evidence)
Likely inborn error of metabolism v5.9 PIGW Achchuthan Shanmugasundram Gene: pigw has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v5.9 PIGW Achchuthan Shanmugasundram Classified gene: PIGW as Amber List (moderate evidence)
Likely inborn error of metabolism v5.9 PIGW Achchuthan Shanmugasundram Gene: pigw has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v5.8 PIGW Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PIGW.
Likely inborn error of metabolism v5.8 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367057, 27626616, 30813920, 32198969; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11 OMIM:616025, hyperphosphatasia with intellectual disability syndrome 5 MONDO:0014457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v4.6 AQP2 Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: AQP2.
Unexplained young onset end-stage renal disease v4.6 AQP2 Achchuthan Shanmugasundram changed review comment from: This gene has been added with green rating to R257 Unexplained young onset end-stage renal disease panel as it has already been rated green in R198 Renal tubulopathies panel (https://panelapp.genomicsengland.co.uk/panels/292/).; to: This gene should be added with green rating to R257 Unexplained young onset end-stage renal disease panel as it has already been rated green in R198 Renal tubulopathies panel (https://panelapp.genomicsengland.co.uk/panels/292/).
Unexplained young onset end-stage renal disease v4.6 RCAN1 Achchuthan Shanmugasundram Entity copied from Proteinuric renal disease v4.12
Unexplained young onset end-stage renal disease v4.6 RCAN1 Achchuthan Shanmugasundram gene: RCAN1 was added
gene: RCAN1 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: RCAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RCAN1 were set to 33863784
Phenotypes for gene: RCAN1 were set to focal segmental glomerulosclerosis, MONDO:0100313; nephrotic syndrome, MONDO:0005377
Unexplained young onset end-stage renal disease v4.5 PRDM15 Achchuthan Shanmugasundram Entity copied from Proteinuric renal disease v4.12
Unexplained young onset end-stage renal disease v4.5 PRDM15 Achchuthan Shanmugasundram gene: PRDM15 was added
gene: PRDM15 was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,Literature
Q2_24_promote_green tags were added to gene: PRDM15.
Mode of inheritance for gene: PRDM15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM15 were set to 31950080; 33593823
Phenotypes for gene: PRDM15 were set to steroid-resistant nephrotic syndrome, MONDO:0044765
Unexplained young onset end-stage renal disease v4.4 NOS1AP Achchuthan Shanmugasundram Entity copied from Proteinuric renal disease v4.12
Unexplained young onset end-stage renal disease v4.4 NOS1AP Achchuthan Shanmugasundram gene: NOS1AP was added
gene: NOS1AP was added to Unexplained young onset end-stage renal disease. Sources: Expert Review Amber,Literature
Q1_24_promote_green tags were added to gene: NOS1AP.
Mode of inheritance for gene: NOS1AP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOS1AP were set to 33523862
Phenotypes for gene: NOS1AP were set to Nephrotic syndrome, type 22, OMIM:619155
Mitochondrial disorders v6.9 MT-TT Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MT-TT.
Likely inborn error of metabolism v5.8 MT-TT Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MT-TT.
Likely inborn error of metabolism v5.8 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy to mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild myopathy
Mitochondrial disorders v6.9 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy to mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild myopathy
Mitochondrial disorders v6.8 MT-TT Sarah Leigh reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v5.7 MT-TT Sarah Leigh reviewed gene: MT-TT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Likely inborn error of metabolism v5.7 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy to mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy
Mitochondrial disorders v6.8 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy to mitochondrial disease, MONDO:0044970; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy
Mitochondrial disorders v6.7 MT-TT Sarah Leigh Publications for gene: MT-TT were set to 32083134; 8769114; 9367299; 1645537; 8511015; 22638997; 29760464; 30236074; 28187756; 35808913
Intellectual disability v6.26 FAM177A1 Achchuthan Shanmugasundram Deleted their comment
Intellectual disability v6.26 FAM177A1 Achchuthan Shanmugasundram Classified gene: FAM177A1 as Amber List (moderate evidence)
Intellectual disability v6.26 FAM177A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.26 FAM177A1 Achchuthan Shanmugasundram Gene: fam177a1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.26 FAM177A1 Achchuthan Shanmugasundram Classified gene: FAM177A1 as Amber List (moderate evidence)
Intellectual disability v6.26 FAM177A1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (four unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.26 FAM177A1 Achchuthan Shanmugasundram Gene: fam177a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v6.6 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from to mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy
Likely inborn error of metabolism v5.6 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from to mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy
Childhood onset dystonia, chorea or related movement disorder v4.4 MT-TT Sarah Leigh Phenotypes for gene: MT-TT were changed from to mitochondrial disease; Leber optic atrophy, OMIM:535000; myoclonic epilepsy associated with ragged-red fibers, OMIM:545000; fatal infantile respiratory enzyme deficiency; Inherited Diabetes Mellitus; adult onset mild mypathy
Intellectual disability v6.25 FAM177A1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: FAM177A1.
Intellectual disability v6.25 FAM177A1 Achchuthan Shanmugasundram gene: FAM177A1 was added
gene: FAM177A1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM177A1 were set to 25558065; 38767059
Phenotypes for gene: FAM177A1 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Review for gene: FAM177A1 was set to GREEN
Added comment: PMID:25558065 reported a study of 143 multiplex consanguineous families, on which a homozygous frameshift variant in FAM177A1 gene was identified in a family with four affected siblings with intellectual disability, dolicocephaly, obesity, and macrocephaly. The variant segregated with all 4 affected siblings and parents were confirmed heterozygous carriers.

PMID:38767059 reported five individuals from three unrelated families with biallelic loss of function variants in FAM177A1 gene. They presented with clinical manifestations including global developmental delay, intellectual disability, seizures, behavioural abnormalities, hypotonia, gait disturbance, and macrocephaly.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Retinal disorders v5.11 THRB Achchuthan Shanmugasundram Classified gene: THRB as Amber List (moderate evidence)
Retinal disorders v5.11 THRB Achchuthan Shanmugasundram Added comment: Comment on list classification: Although there are three unrelated cases, all of them were identified with the same variant and this variant has not yet been functionally characterised. Hence, this gene should be rated amber with current evidence.

The 'watchlist' tag has also been added.
Retinal disorders v5.11 THRB Achchuthan Shanmugasundram Gene: thrb has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v6.5 MT-TT Sarah Leigh Publications for gene: MT-TT were set to
Likely inborn error of metabolism v5.5 MT-TT Sarah Leigh Publications for gene: MT-TT were set to
Retinal disorders v5.10 THRB Achchuthan Shanmugasundram Tag watchlist tag was added to gene: THRB.
Retinal disorders v5.10 THRB Achchuthan Shanmugasundram gene: THRB was added
gene: THRB was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THRB were set to 37547476
Phenotypes for gene: THRB were set to inherited retinal dystrophy, MONDO:0019118
Review for gene: THRB was set to AMBER
Added comment: PMID:37547476 reported a family of Spanish decent with autosomal dominant inherited retinal dystrophy (IRD) and monoallelic THRB variant (c.283 + 1G>A). An expanded genetic analysis of the THRB gene in an unsolved IRD cohort also resulted in the identification of the same variant in two additional unrelated families. There are also several studies that have shown a role for THRB gene in cone development in a wide range of model organisms.
Sources: Literature
Retinal disorders v5.9 SUMF1 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and non-syndromic retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update.
Retinal disorders v5.9 SUMF1 Achchuthan Shanmugasundram Classified gene: SUMF1 as Amber List (moderate evidence)
Retinal disorders v5.9 SUMF1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Siying Lin and published in PMID:38863195, there are three unrelated cases with biallelic SUMF1 variants and non-syndromic retinal dystrophy. Hence, this gene can be promoted to green rating in the next GMS update.
Retinal disorders v5.9 SUMF1 Achchuthan Shanmugasundram Gene: sumf1 has been classified as Amber List (Moderate Evidence).
Retinal disorders v5.8 SUMF1 Achchuthan Shanmugasundram Phenotypes for gene: SUMF1 were changed from Retinal dystrophy to Multiple sulfatase deficiency, OMIM:272200; inherited retinal dystrophy, MONDO:0019118
Retinal disorders v5.7 SUMF1 Achchuthan Shanmugasundram Publications for gene: SUMF1 were set to PMID 38863195
Retinal disorders v5.6 SUMF1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SUMF1.
Tag Q2_24_NHS_review tag was added to gene: SUMF1.
Retinal disorders v5.6 SUMF1 Achchuthan Shanmugasundram reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38863195; Phenotypes: Multiple sulfatase deficiency, OMIM:272200, inherited retinal dystrophy, MONDO:0019118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.5 AFF2 Sarah Leigh Publications for gene: AFF2 were set to 8334699; 21739600
Intellectual disability v6.24 AFF2 Sarah Leigh Publications for gene: AFF2 were set to 21739600; 8334699; 25529582; 24896178
DDG2P v4.4 AFF2 Sarah Leigh Tag nucleotide-repeat-expansion tag was added to gene: AFF2.
DDG2P v4.4 AFF2 Sarah Leigh reviewed gene: AFF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8334699, 8023854, 21739600, 9299237, 11171404, 11923441, 19136466, 2356291; Phenotypes: ; Mode of inheritance: None
Intellectual disability v6.23 AFF2 Sarah Leigh reviewed gene: AFF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8334699, 8023854, 21739600, 9299237, 11171404, 11923441, 19136466, 2356291; Phenotypes: ; Mode of inheritance: None
Intellectual disability v6.23 AFF2 Sarah Leigh Phenotypes for gene: AFF2 were changed from Intellectual developmental disorder, X-linked 109, OMIM:309548; Fragile XE syndrome (FRAXE) to Intellectual developmental disorder, X-linked 109, OMIM:309548; FRAXE intellectual disability, MONDO:0010659
DDG2P v4.4 AFF2 Sarah Leigh Phenotypes for gene: AFF2 were changed from FRAGILE X-E MENTAL RETARDATION SYNDROME 309548 to Intellectual developmental disorder, X-linked 109, OMIM:309548; FRAXE intellectual disability, MONDO:0010659
Intellectual disability v6.22 AFF2 Sarah Leigh Publications for gene: AFF2 were set to 21739600; 8334699
Intellectual disability v6.22 AFF2 Sarah Leigh Publications for gene: AFF2 were set to
Severe insulin resistance and lipodystrophy syndromes v4.54 WRN Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: WRN.
Severe insulin resistance and lipodystrophy syndromes v4.54 PSMB8 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: PSMB8.
Severe insulin resistance and lipodystrophy syndromes v4.54 PSMB4 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: PSMB4.
Severe insulin resistance and lipodystrophy syndromes v4.54 POC1A Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: POC1A.
Severe insulin resistance and lipodystrophy syndromes v4.54 PIK3R1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: PIK3R1.
Severe insulin resistance and lipodystrophy syndromes v4.54 PCYT1A Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: PCYT1A.
Severe insulin resistance and lipodystrophy syndromes v4.54 PCNT Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: PCNT.
Severe insulin resistance and lipodystrophy syndromes v4.54 MFN2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: MFN2.
Severe insulin resistance and lipodystrophy syndromes v4.54 EPHX1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: EPHX1.
Severe insulin resistance and lipodystrophy syndromes v4.54 BLM Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: BLM.
Severe insulin resistance and lipodystrophy syndromes v4.54 ALMS1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE tag was added to gene: ALMS1.
Ocular coloboma v1.49 GDF3 Arina Puzriakova Publications for gene: GDF3 were set to
Ocular coloboma v1.48 GDF3 Arina Puzriakova Mode of inheritance for gene: GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v5.6 GDF3 Arina Puzriakova Mode of inheritance for gene: GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Anophthalmia or microphthalmia v1.52 GDF3 Arina Puzriakova Mode of inheritance for gene: GDF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v5.5 GDF3 Arina Puzriakova Publications for gene: GDF3 were set to 19864492
Severe insulin resistance and lipodystrophy syndromes v4.54 WRN Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 PSMB8 Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 PSMB4 Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 POC1A Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 PIK3R1 Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 PCYT1A Achchuthan Shanmugasundram Deleted their comment
Skeletal dysplasia v5.4 GDF3 Arina Puzriakova commented on gene: GDF3
Severe insulin resistance and lipodystrophy syndromes v4.54 PCNT Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 MFN2 Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 EPHX1 Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 BLM Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 ALMS1 Achchuthan Shanmugasundram Deleted their comment
Severe insulin resistance and lipodystrophy syndromes v4.54 WRN Achchuthan Shanmugasundram commented on gene: WRN: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 PSMB8 Achchuthan Shanmugasundram commented on gene: PSMB8: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 PSMB4 Achchuthan Shanmugasundram commented on gene: PSMB4: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 POC1A Achchuthan Shanmugasundram commented on gene: POC1A: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 PIK3R1 Achchuthan Shanmugasundram commented on gene: PIK3R1: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 PCYT1A Achchuthan Shanmugasundram commented on gene: PCYT1A: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 PCNT Achchuthan Shanmugasundram commented on gene: PCNT: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 MFN2 Achchuthan Shanmugasundram commented on gene: MFN2: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 EPHX1 Achchuthan Shanmugasundram commented on gene: EPHX1: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 BLM Achchuthan Shanmugasundram commented on gene: BLM: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.54 ALMS1 Achchuthan Shanmugasundram commented on gene: ALMS1: This gene is approved to upgrade to Green when TD eligibility and Clinical Indication name is expanded to Severe insulin resistance and lipodystrophy syndromes.
Severe insulin resistance and lipodystrophy syndromes v4.53 WRN Achchuthan Shanmugasundram Source Expert Review Amber was added to WRN.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 PSMB8 Achchuthan Shanmugasundram Source Expert Review Amber was added to PSMB8.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 PSMB4 Achchuthan Shanmugasundram Source Expert Review Amber was added to PSMB4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 POC1A Achchuthan Shanmugasundram Source Expert Review Amber was added to POC1A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 PIK3R1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PIK3R1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 PCYT1A Achchuthan Shanmugasundram Source Expert Review Amber was added to PCYT1A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 PCNT Achchuthan Shanmugasundram Source Expert Review Amber was added to PCNT.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 MFN2 Achchuthan Shanmugasundram Source Expert Review Amber was added to MFN2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 EPHX1 Achchuthan Shanmugasundram Source Expert Review Amber was added to EPHX1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 BLM Achchuthan Shanmugasundram Source Expert Review Amber was added to BLM.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Severe insulin resistance and lipodystrophy syndromes v4.53 ALMS1 Achchuthan Shanmugasundram Source Expert Review Amber was added to ALMS1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Cerebral vascular malformations v3.16 CBS Ginat Narkis gene: CBS was added
gene: CBS was added to Cerebral vascular malformations. Sources: Literature
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.3 GNB2 Sarah Graham gene: GNB2 was added
gene: GNB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 36658419
Mode of pathogenicity for gene: GNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNB2 was set to GREEN
Added comment: Gene associated with autosomal dominant neurodevelopmental disorder; features include dysmorphic facial features, cardiac and renal abnormalities (OMIM #619503). Recurrent de novo pathogenic missense variant p.(Lys89Glu) (https://www.ncbi.nlm.nih.gov/clinvar/variation/1217306/) reported in a fetus with phenotype consistent with this gene: cardiac abnormalities (hypoplastic left heart and hypoplastic aortic arch, double outlet right ventricle, great arteries located side-by-side, ventricular septal defect, persistent left superior vena cava connecting to coronary sinus), renal agenesis, mildly dysmorphic facies (Byrne 2023 PMID: 36658419).
Sources: Literature
Fetal anomalies v4.3 KCNT1 Sarah Graham reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.3 CLCN5 Sarah Graham gene: CLCN5 was added
gene: CLCN5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLCN5 were set to 36307859; 36495297; 37229200
Review for gene: CLCN5 was set to RED
Added comment: Loss-of-function variants associated with X-linked recessive renal tubular disorders. Maternally inherited hemizygous splice variant, c.934-1G>T, reported in 3 male fetuses with variable phenotypes across 3 studies from the same centre. Phenotypes in reported cases: polyhydramnios and large size for gestational age (Fu 2022 PMID: 36307859, case 229); growth restriction, polyhydramnios, pre-term birth at 31 weeks (Zhou 2023 PMID: 36495297, patient 5); microcephaly (Wang 2023 PMID: 37229200, patient 18). No definitive evidence that this variant is pathogenic. As all prenatal reports are of the same variant and from the same centre, concern that these may be incidental findings due to variant frequency in the local population (variant absent from gnomAD).
Sources: Literature
Fetal anomalies v4.3 ARV1 Sarah Graham gene: ARV1 was added
gene: ARV1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Review for gene: ARV1 was set to AMBER
Added comment: Biallelic loss-of-function variants associated with autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Biallelic variants reported prenatally in 3 families (4 fetuses) in association with abnormal scan findings, particularly renal abnormalities. Renal abnormalities are not a common postnatal finding in this disorder, so causal relationship to scan findings is unclear.

Salian 2021 PMID: 34296759, patient 3 - compound heterozygous frameshift and missense variants, p.(Pro174Alafs*14) and p.(Cys34Tyr), with prenatal hydronephrosis, postnatally profound ID, seizures, genitourinary abnormalities. Salian 2021 PMID: 34296759, Patients 5/6 (successive pregnancies of consanguineous parents) - homozygous c.674-1G>A; patient 5 termination at week 22 due to megaureter, small femora and humeri and narrow thorax; patient 6 NT 6.3 mm at week 14, bilaterally dilated renal pelvis at week 16+1. Fu 2022 PMID: 36307859 - compound het frameshift variants, p.(Glu137Asnfs*13) and p.(Pro174Alafs*14), reported in a fetus with dilation of lateral ventricles and polyhydramnios.
Sources: Literature
Fetal anomalies v4.3 KCNK9 Sarah Graham gene: KCNK9 was added
gene: KCNK9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNK9 were set to PMID: 36307859
Review for gene: KCNK9 was set to GREEN
Added comment: The recurrent p.(Gly236Arg) variant is well established as the cause of KCNK9 Imprinting Syndrome / Birk-Barel Syndrome (OMIM #612292) when present on the maternal allele. This variant has been reported as a de novo finding on exome sequencing in a fetus with scan findings consistent with this disorder (micrognathia, cleft palate). PMID: 36307859
Sources: Literature
Retinal disorders v5.6 SUMF1 Siying Lin gene: SUMF1 was added
gene: SUMF1 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUMF1 were set to PMID 38863195
Phenotypes for gene: SUMF1 were set to Retinal dystrophy
Mode of pathogenicity for gene: SUMF1 was set to Other
Review for gene: SUMF1 was set to GREEN
Added comment: 3 cases published in literature with biallelic variants in SUMF1 and retinal dystrophy, one paediatric patient had an attenuated phenotype, the other two adult patients had non-syndromic retinal dystrophy.

Retinal dystrophy is part of the multiple sulfatase deficiency phenotype typically associated with biallelic variants in SUMF1, and these cases show that presumed hypomorphic variants in SUMF1 may also be associated with non-syndromic retinal dystrophy
Sources: Literature
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 IL1R1 Dmitrijs Rots gene: IL1R1 was added
gene: IL1R1 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature
Mode of inheritance for gene: IL1R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IL1R1 were set to PMID: 37315560
Phenotypes for gene: IL1R1 were set to chronic recurrent multifocal osteomyelitis
Penetrance for gene: IL1R1 were set to unknown
Mode of pathogenicity for gene: IL1R1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: IL1R1 was set to AMBER
Added comment: PMID: 37315560 reported a patient with a de novo missense variant in IL1R1 with functional evidence. Should be amber till further cases?
Sources: Literature
Undiagnosed metabolic disorders v1.620 SLC6A19 Achchuthan Shanmugasundram Mode of inheritance for gene: SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.619 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_MOI was removed from gene: SLC6A19.
Tag Q2_24_expert_review was removed from gene: SLC6A19.
Undiagnosed metabolic disorders v1.619 SLC6A19 Achchuthan Shanmugasundram changed review comment from: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2.

The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants).

Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.; to: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2.

The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants).

Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in this panel.
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Hartnup disorder, OMIM:234500 to Hartnup disorder, OMIM:234500
Undiagnosed metabolic disorders v1.619 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_NHS_review was removed from gene: SLC6A19.
Likely inborn error of metabolism v5.5 SLC6A19 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2.

The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants)nts).

Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.
Likely inborn error of metabolism v5.5 SLC6A19 Achchuthan Shanmugasundram Mode of inheritance for gene: SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Hartnup disorder, OMIM:234500 to Hartnup disorder, OMIM:234500
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Hartnup disorder, OMIM:234500 to Hartnup disorder, OMIM:234500
Likely inborn error of metabolism v5.4 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Iminoglycinuria, digenic; Hartnup disorder AD to Hartnup disorder, OMIM:234500
Likely inborn error of metabolism v5.3 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: SLC6A19.
Likely inborn error of metabolism v5.3 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: SLC6A19.
Tag Q2_24_expert_review tag was added to gene: SLC6A19.
Likely inborn error of metabolism v5.3 SLC6A19 Achchuthan Shanmugasundram reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, OMIM:234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.619 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_expert_review tag was added to gene: SLC6A19.
Tag Q2_24_NHS_review tag was added to gene: SLC6A19.
Undiagnosed metabolic disorders v1.619 SLC6A19 Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: SLC6A19.
Undiagnosed metabolic disorders v1.619 SLC6A19 Achchuthan Shanmugasundram Phenotypes for gene: SLC6A19 were changed from Hartnup disorder 234500 AR; Hyperglycinuria 138500 AD; Iminoglycinuria, digenic 242600 AR to Hartnup disorder, OMIM:234500
Undiagnosed metabolic disorders v1.618 SLC6A19 Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Tracy Lester, SLC6A19 is associated with Hartnup disorder (MIM #234500), which is caused by biallelic variants. SLC6A19 is currently associated with Hyperglycinuria (MIM #138500) and Iminoglycinuria (MIM #242600) in both PanelApp and PanelApp Australia and hence the MOI was set to both monoallelic and biallelic. However, these phenotypes are caused by SLC36A2.

The association in PanelApp was due to the speculation in PMID:19033659 that combination of variants in SLC36A2 with variants in SLC6A20 or SLC6A19 may have contributed to these phenotypes in three of the reported families. The identified variant from SLC6A19 has now been classified as polymorphism because it was present in 62,195 of 282,492 alleles and in 7,227 homozygotes in the gnomAD database (v2.1.1), for an allele frequency of 0.2202 (https://www.omim.org/entry/608893?search=slc6a19&highlight=slc6a19#allelicVariants).

Hence, the MOI should be updated to 'BIALLELIC, autosomal or pseudoautosomal' in the next GMS update.
Undiagnosed metabolic disorders v1.618 SLC6A19 Achchuthan Shanmugasundram Mode of inheritance for gene: SLC6A19 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.617 SLC6A19 Achchuthan Shanmugasundram reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, OMIM:234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia and cerebellar anomalies - narrow panel v5.6 TANGO2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises.

Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Ataxia and cerebellar anomalies - narrow panel v5.6 TANGO2 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder comprising characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.; to: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Ataxia and cerebellar anomalies - narrow panel v5.6 TANGO2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: TANGO2.
Tag Q2_24_NHS_review tag was added to gene: TANGO2.
Ataxia and cerebellar anomalies - narrow panel v5.6 TANGO2 Achchuthan Shanmugasundram Classified gene: TANGO2 as Amber List (moderate evidence)
Ataxia and cerebellar anomalies - narrow panel v5.6 TANGO2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Asma Hamad, biallelic TANGO2 variants are associated with a syndromic disorder comprising characterized by neurodevelopmental delays, seizures, intermittent ataxia, hypothyroidism and life-threatening metabolic and cardiac crises. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Ataxia and cerebellar anomalies - narrow panel v5.6 TANGO2 Achchuthan Shanmugasundram Gene: tango2 has been classified as Amber List (Moderate Evidence).
Ataxia and cerebellar anomalies - narrow panel v5.5 TANGO2 Achchuthan Shanmugasundram Publications for gene: TANGO2 were set to
Ataxia and cerebellar anomalies - narrow panel v5.4 TANGO2 Achchuthan Shanmugasundram Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878
Ataxia and cerebellar anomalies - narrow panel v5.3 TANGO2 Achchuthan Shanmugasundram reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30245509, 31276219, 32527145, 36473599; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, OMIM:616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.7 NEXN Achchuthan Shanmugasundram Added comment: Comment on mode of inheritance: As reviewed by Hannah Robinson, there is sufficient evidence available for updating the MOI from 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.7 NEXN Achchuthan Shanmugasundram Mode of inheritance for gene: NEXN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram edited their review of gene: NEXN: Added comment: PMID:32058062 - One male foetus was reported with compound heterozygous NEXN variants (c.1756A > T & c.1909_1912del) and dilated cardiomyopathy.

PMID:33027564 - One case was identified with dilated and hypertrophic cardiomyopathy and with compound heterozygous NEXN variants (p.Arg216Ter & p.Lys536fs). However, it was not possible to determine the phase (whether cis or trans) on the basis of exome sequencing.

PMID:33949776 - One patient presented with fetal hydrops at 33  weeks gestation requiring emergency caesarian delivery. Postnatally she required ventilation and continuous inotropic support for left ventricle systolic dysfunction. She died after 2 weeks when therapy was withdrawn. Homozygous c.1174C > T (p.Arg392Ter) variant in the NEXN gene was identified in this patient.

PMID:35166435 - A female from a four-generation Swedish family comprising 42 individuals had three three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Homozygous NEXN variant (c.1302del/ p.Ile435Serfs*3) was identified in these foetuses.

In addition to these peer reviewed cases, additional biallelic cases were reported in the following reports: 10.1016/j.jsha.2013.03.180 & 10.1016/j.gimo.2023.100620.

The phenotypes associated with monoallelic variants are already reported in OMIM. However, phenotypes associated with biallelic variants are not yet reported either in OMIM or in Gene2Phenotype.; Changed publications to: 32058062, 33027564, 33949776, 35166435
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: NEXN.
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram Tag Q2_24_MOI tag was added to gene: NEXN.
Paediatric or syndromic cardiomyopathy v4.6 NEXN Achchuthan Shanmugasundram reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 32058062, 32058062, 35166435; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update.
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Classified gene: ITSN1 as Amber List (moderate evidence)
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS update
Intellectual disability v6.21 ITSN1 Achchuthan Shanmugasundram Gene: itsn1 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071 to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.20 ITSN1 Achchuthan Shanmugasundram Phenotypes for gene: ITSN1 were changed from autism spectrum disorders; intellectual disability; epilepsy. to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071
Intellectual disability v6.19 ITSN1 Achchuthan Shanmugasundram Publications for gene: ITSN1 were set to Bruel et al., 2021 (PMID: 34707297):
Intellectual disability v6.18 ITSN1 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: ITSN1.
Tag Q2_24_NHS_review tag was added to gene: ITSN1.
Intellectual disability v6.18 ITSN1 Achchuthan Shanmugasundram reviewed gene: ITSN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34707297; Phenotypes: neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly v5.8 RNU4-2 Arina Puzriakova Entity copied from Intellectual disability v6.18
Severe microcephaly v5.8 RNU4-2 Arina Puzriakova gene: RNU4-2 was added
gene: RNU4-2 was added to Severe microcephaly. Sources: Expert Review Amber,Literature
locus-type-rna-small-nuclear, Q2_24_promote_green tags were added to gene: RNU4-2.
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 38821540; 38645094
Phenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related
Early onset or syndromic epilepsy v5.14 RNU4-2 Arina Puzriakova Entity copied from Intellectual disability v6.18
Early onset or syndromic epilepsy v5.14 RNU4-2 Arina Puzriakova gene: RNU4-2 was added
gene: RNU4-2 was added to Early onset or syndromic epilepsy. Sources: Expert Review Amber,Literature
locus-type-rna-small-nuclear, Q2_24_promote_green tags were added to gene: RNU4-2.
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 38821540; 38645094
Phenotypes for gene: RNU4-2 were set to Neurodevelopmental disorder, MONDO:0700092, RNU4-2 related
Intellectual disability v6.18 RNU4-2 Arina Puzriakova Classified gene: RNU4-2 as Amber List (moderate evidence)
Intellectual disability v6.18 RNU4-2 Arina Puzriakova Added comment: Comment on list classification: The two papers (PMID: 38821540; 38645094) corroborate mutual findings and report over 100 unrelated individuals with a clinically overlapping neurological disorder and variants the non-coding gene RNU4-2.

Overall there is sufficient evidence to promote this gene to Green status at the next GMS panel update.
Intellectual disability v6.18 RNU4-2 Arina Puzriakova Gene: rnu4-2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.17 RNU4-2 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2.
Tag Q2_24_promote_green tag was added to gene: RNU4-2.
Intellectual disability v6.17 RNU4-2 Arina Puzriakova Publications for gene: RNU4-2 were set to 38645094
Intellectual disability v6.16 RNU4-2 Arina Puzriakova reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38821540, 38645094; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Thoracic aortic aneurysm or dissection (GMS) v3.16 THBS2 Arina Puzriakova Publications for gene: THBS2 were set to https://doi.org/10.1038/s41431-024-01559-1
Thoracic aortic aneurysm or dissection (GMS) v3.15 THBS2 Arina Puzriakova Classified gene: THBS2 as Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v3.15 THBS2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Neeti Ghali (NWTRGS). Rating Red as only a single family has been reported to date (see below) but this is a good candidate for future promotion if additional cases are identified.

- PMID: 38433265 (2024) reports on a three-generation family of Ashkenazi Jewish ancestry with a previously uncharacterised connective tissue disorder with features of EDS with prominent vascular involvement, caused by a heterozygous pathogenic variant (c.2686T>C, p.Cys896Arg) in THBS2.
Thoracic aortic aneurysm or dissection (GMS) v3.15 THBS2 Arina Puzriakova Gene: thbs2 has been classified as Red List (Low Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v3.15 THBS2 Arina Puzriakova Classified gene: THBS2 as Red List (low evidence)
Ehlers Danlos syndrome with a likely monogenic cause v3.15 THBS2 Arina Puzriakova Gene: thbs2 has been classified as Red List (Low Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v3.14 THBS2 Arina Puzriakova Publications for gene: THBS2 were set to https://doi.org/10.1038/s41431-024-01559-1
Ehlers Danlos syndrome with a likely monogenic cause v3.13 THBS2 Arina Puzriakova Classified gene: THBS2 as No list
Ehlers Danlos syndrome with a likely monogenic cause v3.13 THBS2 Arina Puzriakova Added comment: Comment on list classification: New gene added by Neeti Ghali (NWTRGS). Rating Red as only a single family has been reported to date (see below) but this is a good candidate for future promotion if additional cases are identified.

- PMID: 38433265 (2024) reports on a three-generation family of Ashkenazi Jewish ancestry with a previously uncharacterised connective tissue disorder with features of EDS with prominent vascular involvement, caused by a heterozygous pathogenic variant (c.2686T>C, p.Cys896Arg) in THBS2.
Ehlers Danlos syndrome with a likely monogenic cause v3.13 THBS2 Arina Puzriakova Gene: thbs2 has been removed from the panel.
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova changed review comment from: Comment on list classification: This gene was reassessed in light of the Green review by Neeti Ghali (NWTRGS). The evidence suggests that vascular complications are observed in a subset of cases. Colman et al. 2022 (PMID: 35587586) reviewed previously reported cases and show that 10/35 individuals presented with vascular phenotypes (4 artery dissection, 3 aneurysms (1 requiring embolisation), 2 aortic root dilation, 1 ascending aorta dilation, 3 arterial tortuosity).

In cases where vascular abnormalities are present, this panel may serve as an important diagnostic pathway, as highlighted by Neeti Ghali.

Upgrading from Red to Amber; however, due to conflicting expert reviews, this gene will be flagged for further GMS specialist assessment during the next iteration of GMS panel updates to determine if it should be made Green.; to: Comment on list classification: This gene was reassessed in light of the Green review by Neeti Ghali (NWTRGS). The evidence suggests that vascular complications can be observed in a subset of cases. Colman et al. 2022 (PMID: 35587586) reviewed previously reported cases and showed that 10/35 individuals presented with vascular phenotypes (4 artery dissection, 3 aneurysms (1 requiring embolisation), 2 aortic root dilation, 1 ascending aorta dilation, 3 arterial tortuosity).

In cases where vascular abnormalities are present, this panel may serve as an important diagnostic pathway, as highlighted by Neeti Ghali.

Upgrading from Red to Amber; however, due to conflicting expert reviews, this gene will be flagged for further GMS specialist assessment during the next iteration of GMS panel updates to determine if it should be made Green.
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Tag Q2_24_expert_review tag was added to gene: COL1A1.
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Classified gene: COL1A1 as Amber List (moderate evidence)
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Added comment: Comment on list classification: This gene was reassessed in light of the Green review by Neeti Ghali (NWTRGS). The evidence suggests that vascular complications are observed in a subset of cases. Colman et al. 2022 (PMID: 35587586) reviewed previously reported cases and show that 10/35 individuals presented with vascular phenotypes (4 artery dissection, 3 aneurysms (1 requiring embolisation), 2 aortic root dilation, 1 ascending aorta dilation, 3 arterial tortuosity).

In cases where vascular abnormalities are present, this panel may serve as an important diagnostic pathway, as highlighted by Neeti Ghali.

Upgrading from Red to Amber; however, due to conflicting expert reviews, this gene will be flagged for further GMS specialist assessment during the next iteration of GMS panel updates to determine if it should be made Green.
Thoracic aortic aneurysm or dissection (GMS) v3.14 COL1A1 Arina Puzriakova Gene: col1a1 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection (GMS) v3.13 COL1A1 Arina Puzriakova Phenotypes for gene: COL1A1 were changed from Ehlers-Danlos syndrome, classic, 130000; Ehlers-Danlos syndrome, type VIIA, 130060 to Ehlers-Danlos syndrome, arthrochalasia type, 1, OMIM:130060
Thoracic aortic aneurysm or dissection (GMS) v3.12 COL1A1 Arina Puzriakova Publications for gene: COL1A1 were set to
Thoracic aortic aneurysm or dissection (GMS) v3.11 COL1A1 Arina Puzriakova Tag Q2_24_promote_green tag was added to gene: COL1A1.
Tag Q2_24_NHS_review tag was added to gene: COL1A1.
Thoracic aortic aneurysm or dissection (GMS) v3.11 COL1A1 Neeti Ghali reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35587586; Phenotypes: skin (soft, doughy, hyperextensible, fragile) with atrophic scarring, musculoskeletal (joint hypermobility, dislocations, spinal and chest wall deformities), vascular complications (see below); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v3.12 THBS2 Neeti Ghali gene: THBS2 was added
gene: THBS2 was added to Ehlers Danlos syndrome with a likely monogenic cause. Sources: Literature
Mode of inheritance for gene: THBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THBS2 were set to https://doi.org/10.1038/s41431-024-01559-1
Phenotypes for gene: THBS2 were set to vascular phenotype; joint hypermobility, tendon rupture, joint dislocations; prolonged bleeding; atrophic scarring, aortopathy
Penetrance for gene: THBS2 were set to unknown
Mode of pathogenicity for gene: THBS2 was set to Other
Review for gene: THBS2 was set to AMBER
Added comment: For R101, I would consider this to be 'amber' (ie low-ish evidence at present). There is only one recently (March 2024) published family but mouse work was also described in this publication. The phenotype is described as a novel form of EDS with vascular features as well as musculoskeletal (joint hypermobility, tendon rupture and joint dislocations), haematological (prolonged bleeding) and dermatological features (atrophic scarring). One patient had cerebral aneurysms and died from an abdominal aorta dissection at the age of 70 (but therefore was not genetically confirmed) and one displayed an enlarged ascending aortic arch at 50 (4.2cm). Lifestyle factors were not discussed and the two younger relatives (30s) did not have aortopathy. Electron microscopy revealed abnormally disorganised collagen fibres. The variant described is a missense (Cys to Arg in highly conserved region) and a CRISPR/Cas9 knock-in mouse demonstrated phenotypic traits correlating with those observed in human subjects (but not aortopathy). Protein has been found to be mainly expressed in large blood vessels such as aorta.
Sources: Literature
Thoracic aortic aneurysm or dissection (GMS) v3.11 THBS2 Neeti Ghali gene: THBS2 was added
gene: THBS2 was added to Thoracic aortic aneurysm or dissection (GMS). Sources: Literature
Mode of inheritance for gene: THBS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: THBS2 were set to https://doi.org/10.1038/s41431-024-01559-1
Phenotypes for gene: THBS2 were set to aortic dilatation and rupture; prolonged bleeding time; atrophic scarring, joint hypermobility and frequent joint dislocations
Penetrance for gene: THBS2 were set to unknown
Mode of pathogenicity for gene: THBS2 was set to Other
Review for gene: THBS2 was set to RED
Added comment: For R125, I would consider this to be 'red' (ie low evidence at present) but with a view to observing for other publications. There is only one recently (March 2024) published family but mouse work was also described in this publication. The phenotype is described as a novel form of EDS with vascular features as well as musculoskeletal (joint hypermobility, tendon rupture and joint dislocations), haematological (prolonged bleeding) and dermatological features (atrophic scarring). One patient had cerebral aneurysms and died from an abdominal aorta dissection at the age of 70 (but therefore was not genetically confirmed) and one displayed an enlarged ascending aortic arch at 50 (4.2cm). Lifestyle factors were not discussed and the two younger relatives (30s) did not have aortopathy. Electron microscopy revealed abnormally disorganised collagen fibres. The variant described is a missense (Cys to Arg in highly conserved region) and a CRISPR/Cas9 knock-in mouse demonstrated phenotypic traits correlating with those observed in human subjects (but not aortopathy). Protein has been found to be mainly expressed in large blood vessels such as aorta.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v5.3 TANGO2 Asma Hamad changed review comment from: PMID 30245509
- Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10)

PMID 31276219
- 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia

PMID 36473599
- Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted.

PMID 32527145
- Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature

I am a NHS Clinician and have clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated.
Sources: Literature; to: PMID 30245509
- Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10)

PMID 31276219
- 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia

PMID 36473599
- Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted.

PMID 32527145
- Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature

I am a NHS Clinician and have clinical experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene was not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v5.3 TANGO2 Asma Hamad changed review comment from: PMID 30245509
- Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10)

PMID 31276219
- 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia

PMID 36473599
- Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted.

PMID 32527145
- Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature

Clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated.
Sources: Literature; to: PMID 30245509
- Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10)

PMID 31276219
- 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia

PMID 36473599
- Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted.

PMID 32527145
- Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature

I am a NHS Clinician and have clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated.
Sources: Literature
Ataxia and cerebellar anomalies - narrow panel v5.3 TANGO2 Asma Hamad gene: TANGO2 was added
gene: TANGO2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: TANGO2 was set to AMBER
Added comment: PMID 30245509
- Report of 14 individuals with TANGO2-related disorder. One of the patients discussed developed ataxia and dizziness at the age of 2 yeas (Patient 10)

PMID 31276219
- 2019 paper which reports 11 new cases of TANGO2-related disease. All 11 patients showed developmental delay with ataxia

PMID 36473599
- Data collected from 73 individuals studying the natural history of TANGO2 deficiency disorder. 94% of individuals (65/69) had ataxia as a feature. Ataxia was one of the symptoms found to occur between the ages of 1 to 3 years and of the first symptoms noted.

PMID 32527145
- Case report of a 6-year old girl diagnosed with TANGO2-related disease. By the age of 29 months, she had developed ataxia that worsened with viral illnesses and seizures and was recurrent in nature

Clinical Experience of a patient who had episodic ataxia as one of their presenting features. Testing in the hereditary ataxia panel did not find any pathogenic variants as the TANGO2 gene is not present on the panel. A diagnosis was later achieved over 4 years later when it became evident they had learning difficulties and the R29 panel was activated.
Sources: Literature
Intellectual disability v6.16 ITSN1 John Taylor gene: ITSN1 was added
gene: ITSN1 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: ITSN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITSN1 were set to Bruel et al., 2021 (PMID: 34707297):
Phenotypes for gene: ITSN1 were set to autism spectrum disorders; intellectual disability; epilepsy.
Penetrance for gene: ITSN1 were set to unknown
Review for gene: ITSN1 was set to GREEN
gene: ITSN1 was marked as current diagnostic
Added comment: Bruel et al 2021 (PMID: 34707297):
Recent studies in large cohorts of subjects with neurodevelopmental disorders have identified de novo variants in ITSN1 gene thereby suggesting that this gene is involved in the development of such disorders.

A worldwide collaboration identified ten novel patients from eight families with heterozygous truncating or missense variants in ITSN1 gene. All patients underwent detailed phenotypic and genetic assessment and data was collected and shared by healthcare givers.

In addition, four previously published patients from large meta-analysis studies were included.
In total, 7/14 patients presented a de novo variant in ITSN1. Frameshift, nonsense and splice site variants would be consistent with haploinsufficiency. gnomADv4.1 indicates the ITSN1 gene is intolerant to LoF variants and Decipher indicates a high haploinsufficiency index score.

All patients showed neurodevelopmental disorders from autism spectrum disorders (90%), intellectual disability (86%), and epilepsy (30%). Minor and inconstant dysmorphic features were observed. Gastro-intestinal problems including constipation, diarrhoea, and gastroesophageal reflux was reported in some patients. Intellectual disability (IQ test) was reported to range from mild to moderate. In two families, the ITSN1 variant was inherited from a paucisymptomatic father, who were reported to present with ADHD, or learning difficulties and autistic features. Patients 8,9, and 10 (Bruel et al., 2021) inherited the familial nonsense variant from their father (learning difficulties and autistic features) and one unaffected sibling was not found to have the variant.
Sources: Literature
Fetal anomalies v4.3 TLL1 Arina Puzriakova Classified gene: TLL1 as Green List (high evidence)
Fetal anomalies v4.3 TLL1 Arina Puzriakova Added comment: Comment on list classification: TLL1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.3 TLL1 Arina Puzriakova Gene: tll1 has been classified as Green List (High Evidence).
Fetal anomalies v4.2 TLL1 Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: TLL1.
Tag Q2_24_NHS_review tag was added to gene: TLL1.
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Classified gene: CELSR1 as Green List (high evidence)
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Added comment: Comment on list classification: CELSR1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Gene: celsr1 has been classified as Green List (High Evidence).
Fetal anomalies v4.1 CELSR1 Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: CELSR1.
Tag Q2_24_NHS_review tag was added to gene: CELSR1.
Hypertrophic cardiomyopathy v4.13 TBX20 Sarah Leigh Entity copied from Dilated and arrhythmogenic cardiomyopathy v2.31
Hypertrophic cardiomyopathy v4.13 TBX20 Sarah Leigh gene: TBX20 was added
gene: TBX20 was added to Hypertrophic cardiomyopathy. Sources: Expert Review Amber,NHS GMS
Q2_24_promote_green tags were added to gene: TBX20.
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX20 were set to 17668378; 19762328; 37657916; 33585493; 29089047; 35282022
Phenotypes for gene: TBX20 were set to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021
Dilated and arrhythmogenic cardiomyopathy v2.31 TBX20 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: TBX20.
Familial non syndromic congenital heart disease v1.86 TBX20 Sarah Leigh Classified gene: TBX20 as Green List (high evidence)
Familial non syndromic congenital heart disease v1.86 TBX20 Sarah Leigh Gene: tbx20 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy and conduction defects v1.94 TBX20 Sarah Leigh Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Familial non syndromic congenital heart disease v1.85 TBX20 Sarah Leigh Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated and arrhythmogenic cardiomyopathy v2.31 TBX20 Sarah Leigh commented on gene: TBX20: Three TBX20 variants have been associated with Atrial septal defect 4, in OMIM and Gen2Phen (PMID:17668378; 19762328) and seven TBX20 variants have been associated with Left ventricular noncompaction (LVNC)(PMID:37657916; 29089047; 35282022).
Dilated Cardiomyopathy and conduction defects v1.93 TBX20 Sarah Leigh Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial non syndromic congenital heart disease v1.84 TBX20 Sarah Leigh reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated Cardiomyopathy and conduction defects v1.92 TBX20 Sarah Leigh Mode of inheritance for gene: TBX20 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dilated Cardiomyopathy and conduction defects v1.91 TBX20 Sarah Leigh Classified gene: TBX20 as Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.91 TBX20 Sarah Leigh Gene: tbx20 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy and conduction defects v1.90 TBX20 Sarah Leigh reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v2.31 TBX20 Sarah Leigh reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated and arrhythmogenic cardiomyopathy v2.31 TBX20 Sarah Leigh Publications for gene: TBX20 were set to 17668378; 19762328; 37657916
Dilated Cardiomyopathy and conduction defects v1.90 TBX20 Sarah Leigh Publications for gene: TBX20 were set to
Familial non syndromic congenital heart disease v1.84 TBX20 Sarah Leigh Publications for gene: TBX20 were set to 17668378; 19762328; 37657916
Dilated Cardiomyopathy and conduction defects v1.89 TBX20 Sarah Leigh Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021
Familial non syndromic congenital heart disease v1.83 TBX20 Sarah Leigh Phenotypes for gene: TBX20 were changed from Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654 to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021
Dilated and arrhythmogenic cardiomyopathy v2.30 TBX20 Sarah Leigh Phenotypes for gene: TBX20 were changed from Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654 to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654; Dilated cardiomyopathy, MONDO:0005021
Inherited pancreatic cancer v2.7 STK11 Sarah Leigh Phenotypes for gene: STK11 were changed from Pancreatic cancer, somatic, OMIM:260350 to Pancreatic cancer, somatic, OMIM:260350; familial pancreatic carcinoma, MONDO:0015278
Inherited pancreatic cancer v2.6 STK11 Sarah Leigh Publications for gene: STK11 were set to 30558719
Inherited pancreatic cancer v2.5 STK11 Sarah Leigh reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited pancreatic cancer v2.5 STK11 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: STK11.
Tag Q2_24_NHS_review tag was added to gene: STK11.
Inherited pancreatic cancer v2.5 STK11 Sarah Leigh Classified gene: STK11 as Amber List (moderate evidence)
Inherited pancreatic cancer v2.5 STK11 Sarah Leigh Gene: stk11 has been classified as Amber List (Moderate Evidence).
Inherited pancreatic cancer v2.4 ATM Sarah Leigh reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited pancreatic cancer v2.4 ATM Sarah Leigh Tag Q2_24_promote_green tag was added to gene: ATM.
Tag Q2_24_MOI tag was added to gene: ATM.
Tag Q2_24_NHS_review tag was added to gene: ATM.
Inherited pancreatic cancer v2.4 ATM Sarah Leigh Classified gene: ATM as Amber List (moderate evidence)
Inherited pancreatic cancer v2.4 ATM Sarah Leigh Gene: atm has been classified as Amber List (Moderate Evidence).
Laterality disorders and isomerism v3.15 ARL2BP Sarah Leigh Tag Q2_24_promote_green tag was added to gene: ARL2BP.
Tag Q2_24_MOI tag was added to gene: ARL2BP.
Tag Q2_24_NHS_review tag was added to gene: ARL2BP.
Laterality disorders and isomerism v3.15 ARL2BP Sarah Leigh Publications for gene: ARL2BP were set to 36507858; 38649918; 23849777; 31425546
Laterality disorders and isomerism v3.14 ARL2BP Sarah Leigh reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Laterality disorders and isomerism v3.14 ARL2BP Sarah Leigh Phenotypes for gene: ARL2BP were changed from Retinitis pigmentosa with or without situs inversus, OMIM:615434 to Retinitis pigmentosa with or without situs inversus, OMIM:615434; retinitis pigmentosa with or without situs inversus, MONDO:0014186
Laterality disorders and isomerism v3.13 ARL2BP Sarah Leigh Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa with or without situs inversus, OMIM:615434
Laterality disorders and isomerism v3.12 ARL2BP Sarah Leigh Publications for gene: ARL2BP were set to 36507858; 38649918; 38649918
Laterality disorders and isomerism v3.11 ARL2BP Sarah Leigh Classified gene: ARL2BP as Amber List (moderate evidence)
Laterality disorders and isomerism v3.11 ARL2BP Sarah Leigh Gene: arl2bp has been classified as Amber List (Moderate Evidence).
Dilated and arrhythmogenic cardiomyopathy v2.29 PRDM16 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PRDM16.
Tag Q2_24_NHS_review tag was added to gene: PRDM16.
Dilated and arrhythmogenic cardiomyopathy v2.29 PRDM16 Sarah Leigh reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated Cardiomyopathy and conduction defects v1.88 PRDM16 Sarah Leigh reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated Cardiomyopathy and conduction defects v1.88 PRDM16 Sarah Leigh Classified gene: PRDM16 as Green List (high evidence)
Dilated Cardiomyopathy and conduction defects v1.88 PRDM16 Sarah Leigh Gene: prdm16 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy and conduction defects v1.87 PRDM16 Sarah Leigh Phenotypes for gene: PRDM16 were changed from Cardiomyopathy, dilated, 1LL to Cardiomyopathy, dilated, 1LL, OMIM:615373; Left ventricular noncompaction 8, OMIM:615373; left ventricular noncompaction 8, MONDO:0014152
Dilated and arrhythmogenic cardiomyopathy v2.29 PRDM16 Sarah Leigh Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL, OMIM:615373; Left ventricular noncompaction 8, OMIM:615373; left ventricular noncompaction 8, MONDO:0014152
Dilated and arrhythmogenic cardiomyopathy v2.28 PRDM16 Sarah Leigh Publications for gene: PRDM16 were set to
Dilated Cardiomyopathy and conduction defects v1.86 PRDM16 Sarah Leigh Publications for gene: PRDM16 were set to
Skeletal dysplasia v5.4 CBFB Sarah Leigh Entity copied from Cleidocranial Dysplasia v1.4
Skeletal dysplasia v5.4 CBFB Sarah Leigh gene: CBFB was added
gene: CBFB was added to Skeletal dysplasia. Sources: Literature,Expert Review Amber
Q2_24_promote_green, Q2_24_MOI, Q2_24_NHS_review tags were added to gene: CBFB.
Mode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CBFB were set to 36241386
Phenotypes for gene: CBFB were set to Cleidocranial dysplasia 2, OMIM:620099; cleidocranial dysplasia 2, MONDO:0859307
Penetrance for gene: CBFB were set to Complete
Familial non syndromic congenital heart disease v1.82 TBX20 Sarah Leigh Publications for gene: TBX20 were set to 17668378, 19762328
Dilated and arrhythmogenic cardiomyopathy v2.27 TBX20 Sarah Leigh Publications for gene: TBX20 were set to
Familial non syndromic congenital heart disease v1.81 TBX20 Sarah Leigh Phenotypes for gene: TBX20 were changed from Atrial septal defect 4 611363 to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654
Dilated and arrhythmogenic cardiomyopathy v2.26 TBX20 Sarah Leigh Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, OMIM:611363; atrial septal defect 4, MONDO:0012654
Early onset or syndromic epilepsy v5.13 ANO4 Sarah Leigh commented on gene: ANO4: To date, no phenotype has been associated with ANO4 variants in OMIM, Gen2Phen or Mondo.
Intellectual disability v6.16 ANO4 Sarah Leigh commented on gene: ANO4: To date, no phenotype has been associated with ANO4 variants in OMIM, Gen2Phen or Mondo.
Early onset or syndromic epilepsy v5.13 ANO4 Sarah Leigh Phenotypes for gene: ANO4 were changed from to sporadic encephalopathic and familial epilepsy
Intellectual disability v6.16 ANO4 Sarah Leigh Phenotypes for gene: ANO4 were changed from to sporadic encephalopathic and familial epilepsy
Intellectual disability v6.15 ANO4 Sarah Leigh Classified gene: ANO4 as Amber List (moderate evidence)
Intellectual disability v6.15 ANO4 Sarah Leigh Gene: ano4 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.12 ANO4 Sarah Leigh Classified gene: ANO4 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.12 ANO4 Sarah Leigh Gene: ano4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v6.14 ANO4 Sarah Leigh gene: ANO4 was added
gene: ANO4 was added to Intellectual disability. Sources: Literature
Q2_24_promote_green, Q2_24_MOI tags were added to gene: ANO4.
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO4 were set to 38744284
Mode of pathogenicity for gene: ANO4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ANO4 was set to GREEN
Added comment: PMID: 38744284 reports five de novo ANO4 missense variants in patients (I1–I5) with a phenotype that includes intellectual disability, developmental and epileptic or epileptic encephalopathy (DEE/EE) and hypotonia. A further two ANO4 missenses variants were observed, one had been inherited from unaffected mother (patient F7) and with a penetrance of 73% in members of a large pedigree with a milder phenotype (PMID: 38744284: Supplementary figure S2). Febrile seizures plus (GEFS+) or temporal lobe epilepsy were associated with these inherited variants. A dominant negative mechanism was proposed by Yang et al (PMID: 38744284) as a result of functional studies of one of the variants causing DEE/EE and one causing GEFS+.
Sources: Literature
Early onset or syndromic epilepsy v5.11 ANO4 Sarah Leigh gene: ANO4 was added
gene: ANO4 was added to Early onset or syndromic epilepsy. Sources: Literature
Q2_24_promote_green, Q2_24_MOI tags were added to gene: ANO4.
Mode of inheritance for gene: ANO4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO4 were set to 38744284
Mode of pathogenicity for gene: ANO4 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: ANO4 was set to GREEN
Added comment: PMID: 38744284 reports five de novo ANO4 missense variants in patients (I1–I5) with a phenotype that includes intellectual disability, developmental and epileptic or epileptic encephalopathy (DEE/EE) and hypotonia. A further two ANO4 missenses variants were observed, one had been inherited from unaffected mother (patient F7) and with a penetrance of 73% in members of a large pedigree with a milder phenotype (PMID: 38744284: Supplementary figure S2). Febrile seizures plus (GEFS+) or temporal lobe epilepsy were associated with these inherited variants. A dominant negative mechanism was proposed by Yang et al (PMID: 38744284) as a result of functional studies of one of the variants causing DEE/EE and one causing GEFS+.
Sources: Literature
Monogenic short stature v0.176 PAPPA2 Arina Puzriakova Publications for gene: PAPPA2 were set to 26902202; 33875846
Monogenic short stature v0.175 PAPPA2 Arina Puzriakova commented on gene: PAPPA2: Inclusion of the PAPPA2 gene on this panel was previously reviewed and disagreed by the GMS expert group. However, this should now be re-evaluated in light of the new review Melissa Connolly (WMRGL GLH) stating that inclusion would benefit GLH interpretation.
Monogenic short stature v0.175 PAPPA2 Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: PAPPA2.
Tag Q1_24_NHS_review tag was added to gene: PAPPA2.
Tag Q1_24_expert_review tag was added to gene: PAPPA2.
Autoinflammatory disorders v2.3 OGFRL1 Arina Puzriakova Classified gene: OGFRL1 as Amber List (moderate evidence)
Autoinflammatory disorders v2.3 OGFRL1 Arina Puzriakova Added comment: Comment on list classification: New gene added by Hannah Knight. Rating Amber, awaiting further cases. To date, a single publication (PMID: 38699440) has reported two unrelated cherubism families with homozygous variants in this gene.
Autoinflammatory disorders v2.3 OGFRL1 Arina Puzriakova Gene: ogfrl1 has been classified as Amber List (Moderate Evidence).
Autoinflammatory disorders v2.2 OGFRL1 Arina Puzriakova Publications for gene: OGFRL1 were set to PMID: 38699440
Fetal anomalies v4.1 MDFIC Dmitrijs Rots gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to conducting lymphatic anomaly with lymphedema
Review for gene: MDFIC was set to GREEN
Added comment: Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating.
Sources: Literature
Fetal anomalies v4.1 CELSR1 Stephanie Allen changed review comment from: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.; to: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.
Fetal anomalies v4.1 TLL1 Stephanie Allen reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.1 CELSR1 Stephanie Allen reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.3 Achchuthan Shanmugasundram Panel name changed from Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing to Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing
Likely inborn error of metabolism v5.3 RNASEH2C Achchuthan Shanmugasundram Tag Q1_24_promote_green tag was added to gene: RNASEH2C.
Tag Q1_24_NHS_review tag was added to gene: RNASEH2C.
Likely inborn error of metabolism v5.3 RNASEH2C Achchuthan Shanmugasundram Tag Q1_22_NHS_review was removed from gene: RNASEH2C.
Tag Q1_24_promote_green was removed from gene: RNASEH2C.
NARP syndrome or maternally inherited Leigh syndrome v1.3 MT-ND6 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: MT-ND6.
NARP syndrome or maternally inherited Leigh syndrome v1.3 MT-ND6 Achchuthan Shanmugasundram edited their review of gene: MT-ND6: Changed rating: RED
NARP syndrome or maternally inherited Leigh syndrome v1.3 MT-ND6 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
NARP syndrome or maternally inherited Leigh syndrome v1.3 MT-ND6 Achchuthan Shanmugasundram commented on gene: MT-ND6: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.
NARP syndrome or maternally inherited Leigh syndrome v1.2 MT-ND6 Achchuthan Shanmugasundram Source Expert Review Removed was added to MT-ND6.
Rating Changed from Green List (high evidence) to No List (delete)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram Tag curated_removed tag was added to gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: SLC25A11.
Tag Q4_23_NHS_review was removed from gene: SLC25A11.
Tag Q4_23_expert_review was removed from gene: SLC25A11.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: MDH2.
Tag Q4_23_NHS_review was removed from gene: MDH2.
Tag Q4_23_expert_review was removed from gene: MDH2.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 DLST Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: DLST.
Tag Q4_23_NHS_review was removed from gene: DLST.
Tag Q4_23_expert_review was removed from gene: DLST.
Tag curated_removed tag was added to gene: DLST.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 DLST Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreyfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to grey following NHS Genomic Medicine Service approval.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 DLST Achchuthan Shanmugasundram commented on gene: DLST
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 SLC25A11 Achchuthan Shanmugasundram commented on gene: SLC25A11
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.8 MDH2 Achchuthan Shanmugasundram commented on gene: MDH2
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.7 DLST Achchuthan Shanmugasundram Source Expert Review Removed was added to DLST.
Rating Changed from Green List (high evidence) to No List (delete)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.7 SLC25A11 Achchuthan Shanmugasundram Source Expert Review Removed was added to SLC25A11.
Rating Changed from Green List (high evidence) to No List (delete)
Inherited phaeochromocytoma and paraganglioma excluding NF1 v2.7 MDH2 Achchuthan Shanmugasundram Source Expert Review Removed was added to MDH2.
Rating Changed from Green List (high evidence) to No List (delete)
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.2 ACADM Achchuthan Shanmugasundram reviewed gene: ACADM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.2 ACADM Achchuthan Shanmugasundram Classified gene: ACADM as Green List (high evidence)
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.2 ACADM Achchuthan Shanmugasundram Gene: acadm has been classified as Green List (High Evidence).
Diagnostic testing for Isovaleric acidaemia v0.4 IVD Achchuthan Shanmugasundram reviewed gene: IVD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Diagnostic testing for Isovaleric acidaemia v0.3 IVD Achchuthan Shanmugasundram Source Expert Review Green was added to IVD.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Diagnostic testing for Glutaric acidaemia I v0.3 GCDH Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Diagnostic testing for Glutaric acidaemia I v0.2 GCDH Achchuthan Shanmugasundram Source Expert Review Green was added to GCDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Monogenic short stature v0.175 PAPPA2 Achchuthan Shanmugasundram changed review comment from: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/):

The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis.

Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal

Phenotypes: Short stature; dysmorphism; mild microcephaly

Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; to: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/):

The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis.

Rating: Green List (high evidence)
Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Phenotypes: Short stature; dysmorphism; mild microcephaly
Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf
Monogenic short stature v0.175 PAPPA2 Achchuthan Shanmugasundram commented on gene: PAPPA2: The following is the review left by Melissa Connolly (WMRGL GLH) for this gene in R147 Growth failure in early childhood panel (https://panelapp.genomicsengland.co.uk/panels/473/gene/PAPPA2/):

The addition of this gene to the panel would be useful from a GLH perspective for interpretation purposes. ACGS guidelines state that when trying to incorporate phenotypic data into classification of variants that all other known causes of the phenotype should be excluded. In practice we often receive biochemical data for patients who have abnormal endocrine results in the GH-IGF axis and using this information for assessment of variants becomes easier if all the genes known to cause defects in the GH-IGF1 axis have been included in the analysis.

Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal

Phenotypes: Short stature; dysmorphism; mild microcephaly

Publications: 31555216; Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf
Arthrogryposis v6.7 SLC35A3 Achchuthan Shanmugasundram Classified gene: SLC35A3 as Amber List (moderate evidence)
Arthrogryposis v6.7 SLC35A3 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Hannah Knight, there are 12 affected individuals from four different families reported with biallelic SLC35A3 variants and arthrogryposis. Hence, this gene can be promoted to green rating in the next GMS review.
Arthrogryposis v6.7 SLC35A3 Achchuthan Shanmugasundram Gene: slc35a3 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v6.6 SLC35A3 Achchuthan Shanmugasundram Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Arthrogryposis v6.5 SLC35A3 Achchuthan Shanmugasundram Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures 615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Arthrogryposis v6.4 SLC35A3 Achchuthan Shanmugasundram Publications for gene: SLC35A3 were set to 24031089
Arthrogryposis v6.3 SLC35A3 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: SLC35A3.
Tag Q2_24_NHS_review tag was added to gene: SLC35A3.
Arthrogryposis v6.3 SLC35A3 Achchuthan Shanmugasundram reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v5.6 PQLC2 Achchuthan Shanmugasundram Classified gene: PQLC2 as Amber List (moderate evidence)
Retinal disorders v5.6 PQLC2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are six unrelated families/ cases reported with biallelic SLC66A1 variants and retinal disorders. Hence, this gene should be promoted to green rating in the next GMS review.
Retinal disorders v5.6 PQLC2 Achchuthan Shanmugasundram Gene: pqlc2 has been classified as Amber List (Moderate Evidence).
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: PQLC2.
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram commented on gene: PQLC2: HGNC Gene Symbol: SLC66A1. Hence, 'new-gene-name' tag added.
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: PQLC2.
Retinal disorders v5.5 PQLC2 Achchuthan Shanmugasundram gene: PQLC2 was added
gene: PQLC2 was added to Retinal disorders. Sources: Literature
Mode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PQLC2 were set to 35486108
Phenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200
Review for gene: PQLC2 was set to GREEN
Added comment: PMID:35486108 reported whole-exome sequencing with targeted analysis of SLC genes in 913 cases from 785 families with inherited retinal dystrophy. This identified 2 different homozygous variants in SLC66A1 in three individuals from two families with adult-onset retinal dystrophy.

Olinger et al. (2024) (https://www.sciencedirect.com/science/article/pii/S2949774424009804) reported CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. This identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy, while parents are heterozygous carriers. Review of cohort data then identified homozygous loss-of-function variants (1 nonsense, 2 frameshift) in another 3 unrelated individuals with rod-cone dystrophy.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Paediatric or syndromic cardiomyopathy v4.6 MT-TI Achchuthan Shanmugasundram Classified gene: MT-TI as Amber List (moderate evidence)
Paediatric or syndromic cardiomyopathy v4.6 MT-TI Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least three unrelated cases reported with infantile-onset/ paediatric-onset cardiomyopathy and hence this gene can be promoted to green rating in the next GMS update.
Paediatric or syndromic cardiomyopathy v4.6 MT-TI Achchuthan Shanmugasundram Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Paediatric or syndromic cardiomyopathy v4.5 MT-TI Achchuthan Shanmugasundram Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Paediatric or syndromic cardiomyopathy v4.4 MT-TI Achchuthan Shanmugasundram Publications for gene: MT-TI were set to
Paediatric or syndromic cardiomyopathy v4.3 MT-TI Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-TI.
Paediatric or syndromic cardiomyopathy v4.3 MT-TI Achchuthan Shanmugasundram reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12767666, 21945886, 23332932, 29481798, 30025578; Phenotypes: familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333; Mode of inheritance: MITOCHONDRIAL
Malformations of cortical development v5.5 COL3A1 Eleanor Williams Classified gene: COL3A1 as Amber List (moderate evidence)
Malformations of cortical development v5.5 COL3A1 Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber, with a recommendation for green rating following GMS review.
Malformations of cortical development v5.5 COL3A1 Eleanor Williams Gene: col3a1 has been classified as Amber List (Moderate Evidence).
Malformations of cortical development v5.4 COL3A1 Eleanor Williams Tag Q2_24_promote_green tag was added to gene: COL3A1.
Malformations of cortical development v5.4 COL3A1 Eleanor Williams changed review comment from: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance.

Several cases reported:

PMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant.

PMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria

PMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105). The patient phenotype at birth was bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures.

PMID: 28258187 - Vandervore et al 2017 - exome analysis of a family consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal.
; to: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance.

Several cases reported:

PMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant.

PMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria

PMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105). The patient phenotype at birth was bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family (born of unrelated parents from Chechnya and Ingushetia), the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures.

PMID: 28258187 - Vandervore et al 2017 - exome analysis of a family with unrelated parents from the same mountain village in Chechnya, consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal.
Malformations of cortical development v5.4 COL3A1 Eleanor Williams changed review comment from: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance.

Several cases reported:

PMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant.

PMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria
Sources: Literature; to: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance.

Several cases reported:

PMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS. The phenotype also included diffuse cortical dysplasia. A homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified. Both parents were heterozygous for this variant.

PMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants. One sibling died suddenly due to extensive aortic dissection at age 15. The younger sibling was cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria

PMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105). The patient phenotype at birth was bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures.

PMID: 28258187 - Vandervore et al 2017 - exome analysis of a family consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal.
Monogenic hearing loss v4.41 MYO1A Barbara Vona reviewed gene: MYO1A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24616153; Phenotypes: ; Mode of inheritance: Other
Monogenic hearing loss v4.41 PKHD1L1 Barbara Vona gene: PKHD1L1 was added
gene: PKHD1L1 was added to Monogenic hearing loss. Sources: Literature
Mode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKHD1L1 were set to PMID: 38459354
Phenotypes for gene: PKHD1L1 were set to Hearing loss
Penetrance for gene: PKHD1L1 were set to Complete
Review for gene: PKHD1L1 was set to GREEN
gene: PKHD1L1 was marked as current diagnostic
Added comment: Through exome sequencing of four probands with autosomal recessive non-syndromic sensorineural hearing loss, biallelic variants were identified in PKHD1L1 (Redfield et al., 2024; PMID: 38459354). Hearing loss was of highly variable severities and ranged from mild to profound. It had a congenital (or suspected congenital) onset and was progressive. This work benefitted from two previously published models: a mouse model, showing progressive hearing loss in homozygous conditional knockout animals (Wu et al., 2019; PMID: 31444330) and a zebrafish study with zebrafish homozygous for knockout of both pkhd1l1-alpha and -beta having deficits in auditory startle response (Makrogkikas et al., 2023; PMID: 36960824). PKHD1L1 has been curated in OMIM as causing Autosomal Recessive Deafness 124 (DFNB124). Note that PKHD1L1 is a rather large gene, so variants should be carefully assessed for pathogenicity.
Sources: Literature
Laterality disorders and isomerism v3.10 ARL2BP Nour Elkhateeb changed review comment from: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 38649918. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546).
Sources: Literature; to: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 23849777. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546).
Sources: Literature
Laterality disorders and isomerism v3.10 ARL2BP Nour Elkhateeb gene: ARL2BP was added
gene: ARL2BP was added to Laterality disorders and isomerism. Sources: Literature
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL2BP were set to 36507858; 38649918; 38649918
Phenotypes for gene: ARL2BP were set to Situs Inversus
Review for gene: ARL2BP was set to GREEN
Added comment: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 38649918. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546).
Sources: Literature
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.1 ACADM Achchuthan Shanmugasundram Deleted their review
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.1 ACADM Achchuthan Shanmugasundram Deleted their comment
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.1 ACADM Achchuthan Shanmugasundram gene: ACADM was added
gene: ACADM was added to Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing. Sources: NHS GMS
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, OMIM:201450
Review for gene: ACADM was set to RED
Added comment: Sources: NHS GMS
Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency - full ACADM sequencing v0.0 Achchuthan Shanmugasundram Added Panel Diagnostic testing for MCADD - Medium-chain acyl-CoA dehydrogenase deficiency – full ACADM sequencing
Set list of related panels to R451
Set panel types to: GMS Rare Disease
Diagnostic testing for Glutaric acidaemia I v0.1 GCDH Achchuthan Shanmugasundram gene: GCDH was added
gene: GCDH was added to Diagnostic testing for Glutaric acidaemia I. Sources: NHS GMS
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, OMIM:231670
Diagnostic testing for Glutaric acidaemia I v0.0 Achchuthan Shanmugasundram Added Panel Diagnostic testing for Glutaric acidaemia I
Set list of related panels to R449
Set panel types to: GMS Rare Disease
Diagnostic testing for Isovaleric acidaemia v0.2 Achchuthan Shanmugasundram Panel name changed from Isovaleric acidaemia to Diagnostic testing for Isovaleric acidaemia
Diagnostic testing for Isovaleric acidaemia v0.1 IVD Achchuthan Shanmugasundram gene: IVD was added
gene: IVD was added to Isovaleric acidaemia. Sources: NHS GMS
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, OMIM:243500
Diagnostic testing for Isovaleric acidaemia v0.0 Achchuthan Shanmugasundram Added Panel Isovaleric acidaemia
Set list of related panels to R450
Set panel types to: GMS Rare Disease
Intellectual disability v6.13 RNU4-2 Eleanor Williams commented on gene: RNU4-2
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Classified gene: MT-TI as Amber List (moderate evidence)
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least four unrelated cases with hypertrophic cardiomyopathy and hence this gene can be promoted to green rating in the next GMS review.
Hypertrophic cardiomyopathy v4.12 MT-TI Achchuthan Shanmugasundram Gene: mt-ti has been classified as Amber List (Moderate Evidence).
Hypertrophic cardiomyopathy v4.11 MT-TI Achchuthan Shanmugasundram Phenotypes for gene: MT-TI were changed from to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333
Hypertrophic cardiomyopathy v4.10 MT-TI Achchuthan Shanmugasundram Publications for gene: MT-TI were set to 12767666; 30025578
Hypertrophic cardiomyopathy v4.9 MT-TI Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MT-TI.
Hypertrophic cardiomyopathy v4.9 MT-TI Achchuthan Shanmugasundram reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12767666, 21945886, 23332932, 29481798, 30025578; Phenotypes: familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333; Mode of inheritance: MITOCHONDRIAL
Inherited pancreatic cancer v2.3 ATM Terri McVeigh gene: ATM was added
gene: ATM was added to Inherited pancreatic cancer. Sources: Other
Mode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATM were set to 34529012; 33509806
Phenotypes for gene: ATM were set to Breast, prostate, pancreatic cancer predisposition; recessive trait for ataxia telangiectasia
Penetrance for gene: ATM were set to Incomplete
Mode of pathogenicity for gene: ATM was set to Other
Review for gene: ATM was set to GREEN
Added comment: Discussed at UKCGG/Cancer Leads meeting 29th February 2024 - consensus that ATM should be added to this panel for diagnostic testing in individuals with pancreatic cancer fulfilling eligibility criteria. Reporting of variants should be restricted to truncating variants, high-risk missense c.7271T/G and exceptional variants as determined by Can-VIG UK, as per other panels where ATM is tested for cancer predisposition (R208/430)
Sources: Other
Inherited pancreatic cancer v2.3 STK11 Terri McVeigh reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33513864, 11113065, 16707622, 23240097, 23415580; Phenotypes: Peutz-Jeghers syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital muscular dystrophy v4.24 FHL1 Sarah Leigh edited their review of gene: FHL1: Changed rating: GREEN
Congenital muscular dystrophy v4.24 FHL1 Sarah Leigh changed review comment from: In response to Zornitza Starks' review, Helen Brittain (Genomics England Clinical Fellow) was asked the following question: are the phenotypes of Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (OMIM:300717) and/or Reducing body myopathy, X-linked 1b, with late childhood or adult onset (OMIM:300718), which are associated with FHL1 variants, appropriate for this panel - Congenital muscular dystrophy (R79)?
Helen Brittain replied that in PMID: 19181672, the patients present with weakness and a raised CK - this would make clinicians think of a muscular dystrophy primarily. Although technically it may be a myopathy, I think it is enough of a mimic to be included on both the dystrophy and myopathy panels. Therefore this gene should remain green on Congenital muscular dystrophy; to: In response to Zornitza Starks' review, Helen Brittain (Genomics England Clinical Fellow) was asked the following question: are the phenotypes of Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (OMIM:300717) and/or Reducing body myopathy, X-linked 1b, with late childhood or adult onset (OMIM:300718), which are associated with FHL1 variants, appropriate for this panel - Congenital muscular dystrophy (R79)?
Helen Brittain replied that in PMID: 19181672, the patients present with weakness and a raised CK - this would make clinicians think of a muscular dystrophy primarily. Although technically it may be a myopathy, I think it is enough of a mimic to be included on both the dystrophy and myopathy panels. Therefore this gene should remain green on Congenital muscular dystrophy
Monogenic short stature v0.175 Achchuthan Shanmugasundram Panel status changed from public to internal
Monogenic short stature v0.174 Achchuthan Shanmugasundram Panel status changed from internal to public
Dilated and arrhythmogenic cardiomyopathy v2.25 PRDM16 Mike Spiller reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory disorders v2.1 OGFRL1 Hannah Knight gene: OGFRL1 was added
gene: OGFRL1 was added to Autoinflammatory disorders. Sources: Literature
Mode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGFRL1 were set to PMID: 38699440
Phenotypes for gene: OGFRL1 were set to Cherubism
Review for gene: OGFRL1 was set to AMBER
Added comment: PMID: 38699440 (2024) identified two different homozygous LOF mutations in two unrelated families with cherubism. Functional work carried out, but inconclusive - mouse model did not recapitulate human cherubism
Sources: Literature
Adult onset hereditary spastic paraplegia v4.3 SPG7 Sarah Leigh changed review comment from: The mode of inheritance of this gene has been updated to SPG7 following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal, following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v4.3 SPG7 Sarah Leigh changed review comment from: The mode of inheritance of this gene has been updated to XX following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to SPG7 following NHS Genomic Medicine Service approval.
Hereditary neuropathy or pain disorder v4.11 RTN2 Sarah Leigh Tag Q2_24_NHS_review tag was added to gene: RTN2.
Hereditary neuropathy or pain disorder v4.11 SPTBN4 Sarah Leigh Tag Q2_24_promote_green was removed from gene: SPTBN4.
Tag Q2_24_NHS_review was removed from gene: SPTBN4.
Hereditary neuropathy or pain disorder v4.11 ABHD12 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: ABHD12.
Tag Q2_24_NHS_review tag was added to gene: ABHD12.
Hereditary neuropathy or pain disorder v4.11 AGXT Sarah Leigh Tag Q2_24_promote_green tag was added to gene: AGXT.
Tag Q2_24_NHS_review tag was added to gene: AGXT.
Hereditary neuropathy or pain disorder v4.11 APOA1 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: APOA1.
Tag Q2_24_NHS_review tag was added to gene: APOA1.
Hereditary neuropathy or pain disorder v4.11 B4GALNT1 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: B4GALNT1.
Tag Q2_24_NHS_review tag was added to gene: B4GALNT1.
Hereditary neuropathy or pain disorder v4.11 BCKDHB Sarah Leigh Tag Q2_24_promote_green tag was added to gene: BCKDHB.
Tag Q2_24_NHS_review tag was added to gene: BCKDHB.
Hereditary neuropathy or pain disorder v4.11 FXN Sarah Leigh Tag Q2_24_promote_green tag was added to gene: FXN.
Tag Q2_24_NHS_review tag was added to gene: FXN.
Hereditary neuropathy or pain disorder v4.11 GALC Sarah Leigh Tag Q2_24_promote_green tag was added to gene: GALC.
Tag Q2_24_NHS_review tag was added to gene: GALC.
Hereditary neuropathy or pain disorder v4.11 GBA2 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: GBA2.
Tag Q2_24_NHS_review tag was added to gene: GBA2.
Hereditary neuropathy or pain disorder v4.11 IARS2 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: IARS2.
Tag Q2_24_NHS_review tag was added to gene: IARS2.
Hereditary neuropathy or pain disorder v4.11 LYST Sarah Leigh Tag Q2_24_promote_green tag was added to gene: LYST.
Tag Q2_24_NHS_review tag was added to gene: LYST.
Hereditary neuropathy or pain disorder v4.11 MMACHC Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MMACHC.
Tag Q2_24_NHS_review tag was added to gene: MMACHC.
Hereditary neuropathy or pain disorder v4.11 MTTP Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MTTP.
Tag Q2_24_NHS_review tag was added to gene: MTTP.
Hereditary neuropathy or pain disorder v4.11 NAGA Sarah Leigh Tag Q2_24_promote_green tag was added to gene: NAGA.
Tag Q2_24_NHS_review tag was added to gene: NAGA.
Hereditary neuropathy or pain disorder v4.11 PDYN Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PDYN.
Tag Q2_24_NHS_review tag was added to gene: PDYN.
Hereditary neuropathy or pain disorder v4.11 PEX10 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PEX10.
Tag Q2_24_NHS_review tag was added to gene: PEX10.
Hereditary neuropathy or pain disorder v4.11 PEX7 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PEX7.
Tag Q2_24_NHS_review tag was added to gene: PEX7.
Hereditary neuropathy or pain disorder v4.11 PLP1 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PLP1.
Tag Q2_24_NHS_review tag was added to gene: PLP1.
Hereditary neuropathy or pain disorder v4.11 PMM2 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PMM2.
Tag Q2_24_NHS_review tag was added to gene: PMM2.
Hereditary neuropathy or pain disorder v4.11 PNPLA6 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PNPLA6.
Tag Q2_24_NHS_review tag was added to gene: PNPLA6.
Hereditary neuropathy or pain disorder v4.11 POLR3A Sarah Leigh Tag Q2_24_promote_green tag was added to gene: POLR3A.
Tag Q2_24_NHS_review tag was added to gene: POLR3A.
Hereditary neuropathy or pain disorder v4.11 SACS Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SACS.
Tag Q2_24_NHS_review tag was added to gene: SACS.
Hereditary neuropathy or pain disorder v4.11 SCARB2 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SCARB2.
Tag Q2_24_NHS_review tag was added to gene: SCARB2.
Hereditary neuropathy or pain disorder v4.11 SLC25A19 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SLC25A19.
Tag Q2_24_NHS_review tag was added to gene: SLC25A19.
Hereditary neuropathy or pain disorder v4.11 SPTBN4 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SPTBN4.
Tag Q2_24_NHS_review tag was added to gene: SPTBN4.
Hereditary neuropathy or pain disorder v4.11 SURF1 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: SURF1.
Tag Q2_24_NHS_review tag was added to gene: SURF1.
Hereditary neuropathy or pain disorder v4.11 TYMP Sarah Leigh Tag Q2_24_promote_green tag was added to gene: TYMP.
Tag Q2_24_NHS_review tag was added to gene: TYMP.
Hereditary neuropathy or pain disorder v4.11 XK Sarah Leigh Tag Q2_24_promote_green tag was added to gene: XK.
Tag Q2_24_NHS_review tag was added to gene: XK.
Hereditary neuropathy or pain disorder v4.11 XK Sarah Leigh reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: 8619554, 11261514; Phenotypes: McLeod syndrome, OMIM:300842; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v4.11 TYMP Sarah Leigh reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 14757860, 12177387, 9924029; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 SURF1 Sarah Leigh reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4K, OMIM:616684, Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 SPTBN4 Sarah Leigh edited their review of gene: SPTBN4: Added comment: At least six SPTBN4 variants have been associated with OMIM:617519, which includes axonal and demyelinating peripheral neuropathy as one of the clinical features. Six SPTBN4 variants have been reported by PMID: 28540413;29861105 in five unrelated cases of OMIM:617519.; Changed rating: GREEN; Changed publications to: 28540413, 29861105; Changed phenotypes to: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 SLC25A19 Sarah Leigh reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), OMIM:613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 SCARB2 Sarah Leigh reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure, OMIM:254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 SACS Sarah Leigh reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 POLR3A Sarah Leigh reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiedemann-Rautenstrauch syndrome, OMIM:264090, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM:607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 PNPLA6 Sarah Leigh reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Oliver-McFarlane syndrome, OMIM:275400, Spastic paraplegia 39, autosomal recessive, OMIM:612020, Boucher-Neuhauser syndrome, OMIM:215470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 PMM2 Sarah Leigh reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia, OMIM:212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 PLP1 Sarah Leigh reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked, OMIM:312920, Pelizaeus-Merzbacher disease, OMIM:312080; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Hereditary neuropathy or pain disorder v4.11 PEX7 Sarah Leigh reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, OMIM:14879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 PEX10 Sarah Leigh reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), OMIM:614870, Peroxisome biogenesis disorder 6B, OMIM:614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 PDYN Sarah Leigh reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21035104; Phenotypes: Spinocerebellar ataxia 23, OMIM:610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v4.11 NAGA Sarah Leigh reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8782044, 11251574; Phenotypes: Kanzaki disease, OMIM:609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 MTTP Sarah Leigh reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: 8361539, 10446076, 8111381; Phenotypes: Abetalipoproteinemia, OMIM:200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 MMACHC Sarah Leigh reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 17431913, 16311595, 19370762; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 LYST Sarah Leigh reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 9215680, 8896560, 9215679, 11857544; Phenotypes: Chediak-Higashi syndrome, OMIM:214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 IARS2 Sarah Leigh reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 GBA2 Sarah Leigh reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24252062, 23332917, 23332916; Phenotypes: Spastic paraplegia 46, autosomal recessive, OMIM:614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 GALC Sarah Leigh reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 20886637, 21070211; Phenotypes: Krabbe disease, OMIM:245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 FXN Sarah Leigh reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21830088, 9737785, 8596916; Phenotypes: Friedreich ataxia, OMIM:229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 BCKDHB Sarah Leigh reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 14742428, 2022752, 11509994; Phenotypes: Maple syrup urine disease, type Ib,OMIM:620698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 B4GALNT1 Sarah Leigh reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23746551; Phenotypes: Spastic paraplegia 26, autosomal recessive, OMIM:609195; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 APOA1 Sarah Leigh reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyloidosis, 3 or more types, OMIM:105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy or pain disorder v4.11 AGXT Sarah Leigh reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1961759, 10960483, 15464418; Phenotypes: Hyperoxaluria, primary, type 1, OMIM:259900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder v4.11 ABHD12 Sarah Leigh reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 20797687, 24697911; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, OMIM:612674; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v4.3 SPG7 Eleanor Williams Tag Q2_23_MOI was removed from gene: SPG7.
Hereditary neuropathy or pain disorder v4.10 SLC12A6 Eleanor Williams Tag for-review was removed from gene: SLC12A6.
Tag to_be_confirmed_NHSE was removed from gene: SLC12A6.
Tag Q4_23_promote_green was removed from gene: SLC12A6.
Tag Q4_23_NHS_review was removed from gene: SLC12A6.
Intellectual disability v6.13 ZBTB47 Eleanor Williams Tag gene-checked tag was added to gene: ZBTB47.
Intellectual disability v6.13 KDM5A Eleanor Williams Phenotypes for gene: KDM5A were changed from autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071 to autism spectrum disorder, MONDO:0005258; intellectual disability, MONDO:0001071; El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820
Intellectual disability v6.12 KDM5A Eleanor Williams Tag gene-checked was removed from gene: KDM5A.
Monogenic short stature v0.173 Eleanor Williams Panel status changed from public to internal
Monogenic short stature v0.172 Eleanor Williams Panel status changed from internal to public
Early onset or syndromic epilepsy v5.10 ZBTB47 Eleanor Williams Tag gene-checked tag was added to gene: ZBTB47.
Intellectual disability v6.12 TMEM63B Eleanor Williams Tag gene-checked tag was added to gene: TMEM63B.
Early onset or syndromic epilepsy v5.10 TMEM63B Eleanor Williams Tag gene-checked tag was added to gene: TMEM63B.
Childhood onset dystonia, chorea or related movement disorder v4.3 TMEM151A Eleanor Williams Tag gene-checked tag was added to gene: TMEM151A.
Ataxia and cerebellar anomalies - narrow panel v5.3 THG1L Eleanor Williams Tag gene-checked tag was added to gene: THG1L.
Intellectual disability v6.12 PPP1R3F Eleanor Williams Tag gene-checked tag was added to gene: PPP1R3F.
Early onset or syndromic epilepsy v5.10 PPP1R3F Eleanor Williams Tag gene-checked tag was added to gene: PPP1R3F.
Intellectual disability v6.12 MAST4 Eleanor Williams Tag gene-checked tag was added to gene: MAST4.
Early onset or syndromic epilepsy v5.10 MAST4 Eleanor Williams Tag gene-checked tag was added to gene: MAST4.
Retinal disorders v5.4 CFAP20 Eleanor Williams Tag gene-checked tag was added to gene: CFAP20.
Paediatric or syndromic cardiomyopathy v4.3 CAP2 Eleanor Williams Tag gene-checked tag was added to gene: CAP2.
Early onset or syndromic epilepsy v5.10 RAB5C Eleanor Williams Tag gene-checked tag was added to gene: RAB5C.
Intellectual disability v6.12 RAB5C Eleanor Williams Tag gene-checked tag was added to gene: RAB5C.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 PTPN2 Eleanor Williams Tag gene-checked tag was added to gene: PTPN2.
Intellectual disability v6.12 PABPC1 Eleanor Williams Tag gene-checked tag was added to gene: PABPC1.
Early onset or syndromic epilepsy v5.10 PABPC1 Eleanor Williams Tag gene-checked tag was added to gene: PABPC1.
Neonatal diabetes v4.6 ONECUT1 Eleanor Williams Tag gene-checked tag was added to gene: ONECUT1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 NFAT5 Eleanor Williams Tag gene-checked tag was added to gene: NFAT5.
Intellectual disability v6.12 MYH10 Eleanor Williams Tag gene-checked tag was added to gene: MYH10.
Inherited polyposis and early onset colorectal cancer - germline testing v2.11 GREM1 Eleanor Williams Tag gene-checked tag was added to gene: GREM1.
Severe insulin resistance and lipodystrophy syndromes v4.52 EPHX1 Eleanor Williams Tag gene-checked tag was added to gene: EPHX1.
Adult onset neurodegenerative disorder v5.3 DNAJC7 Eleanor Williams Tag gene-checked tag was added to gene: DNAJC7.
Adult onset neurodegenerative disorder v5.3 DNAJC7 Eleanor Williams reviewed gene: DNAJC7: Rating: ; Mode of pathogenicity: None; Publications: 31768050, 35039179, 34233860, 32897108, 37870677, 35456894; Phenotypes: ; Mode of inheritance: None
Hereditary neuropathy or pain disorder v4.10 DHX9 Eleanor Williams Tag gene-checked tag was added to gene: DHX9.
Intellectual disability v6.12 DHX9 Eleanor Williams Tag gene-checked tag was added to gene: DHX9.
Intellectual disability v6.12 CNOT9 Eleanor Williams Tag gene-checked tag was added to gene: CNOT9.
Early onset or syndromic epilepsy v5.10 CNOT9 Eleanor Williams Tag gene-checked tag was added to gene: CNOT9.
Unexplained young onset end-stage renal disease v4.3 CFHR2 Eleanor Williams Tag gene-checked tag was added to gene: CFHR2.
Intellectual disability v6.12 CDK16 Eleanor Williams Tag gene-checked tag was added to gene: CDK16.
Structural eye disease v3.79 ARHGAP35 Eleanor Williams Tag gene-checked tag was added to gene: ARHGAP35.
Intellectual disability v6.12 ARF3 Eleanor Williams Tag gene-checked tag was added to gene: ARF3.
Early onset or syndromic epilepsy v5.10 ARF3 Eleanor Williams Tag gene-checked tag was added to gene: ARF3.
Severe microcephaly v5.7 ARF3 Eleanor Williams Tag gene-checked tag was added to gene: ARF3.
Clefting v5.3 AMOTL1 Eleanor Williams Tag gene-checked tag was added to gene: AMOTL1.
Likely inborn error of metabolism v5.3 ATP5E Eleanor Williams Tag new-gene-name tag was added to gene: ATP5E.
Monogenic short stature v0.171 Eleanor Williams Panel status changed from public to internal
Hereditary neuropathy or pain disorder v4.10 SLC12A6 Eleanor Williams commented on gene: SLC12A6
Hereditary neuropathy or pain disorder v4.10 SLC12A6 Eleanor Williams Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic short stature v0.170 Eleanor Williams Panel status changed from internal to public
Hereditary neuropathy or pain disorder v4.9 SURF1 Sarah Leigh Publications for gene: SURF1 were set to
Intellectual disability v6.12 MAST3 Sarah Leigh Tag Q2_24_NHS_review tag was added to gene: MAST3.
Early onset or syndromic epilepsy v5.10 MAST3 Sarah Leigh Tag Q2_24_NHS_review tag was added to gene: MAST3.
Intellectual disability v6.12 MAST3 Sarah Leigh Tag Q2_24_MOI was removed from gene: MAST3.
Intellectual disability v6.12 MAST3 Sarah Leigh Entity copied from Early onset or syndromic epilepsy v5.10
Intellectual disability v6.12 MAST3 Sarah Leigh gene: MAST3 was added
gene: MAST3 was added to Intellectual disability. Sources: Expert Review Amber,Literature
Q2_24_promote_green, Q2_24_MOI tags were added to gene: MAST3.
Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST3 were set to 34185323; 35095415
Mode of pathogenicity for gene: MAST3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v5.10 MAST3 Sarah Leigh changed review comment from: MAST3 variants have been associated with Developmental and epileptic encephalopathy 108 (OMIM:620115). PMID:34185323 reports five de novo missense MAST3 variants in eleven unrelated individuals with developmental and epileptic encephalopathy, with a range of seizure types. Functional studies suggest that the MAST3 variants have a gain-of-function effect.
Sources: Literature; to: MAST3 variants have been associated with Developmental and epileptic encephalopathy 108 (OMIM:620115). PMID:34185323 reports five de novo missense MAST3 variants in eleven unrelated individuals with developmental and epileptic encephalopathy, with a range of seizure types. These variants are within the serine-threonine kinases (STK) domain. PMID: 35095415 reports a further four de novo missense MAST3 variants, within the domain of unknown function (DUF). It would appear that the variants within the STK domain are associated with a neurodevelopmental disorder with a epilepsy phenotype, while variants within the DUF domain have a autistic spectrum disorder phenotype (PMID: 35095415)
Functional studies suggest that the MAST3 variants have a gain-of-function effect (PMID:34185323; 35095415).
Early onset or syndromic epilepsy v5.10 MAST3 Sarah Leigh Publications for gene: MAST3 were set to 34185323
Early onset or syndromic epilepsy v5.9 MAST3 Sarah Leigh Added comment: Comment on mode of pathogenicity: It would appear that MAST3 variants have a gain-of-function effect (PMID:34185323).
Early onset or syndromic epilepsy v5.9 MAST3 Sarah Leigh Mode of pathogenicity for gene: MAST3 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Early onset or syndromic epilepsy v5.8 MAST3 Sarah Leigh Classified gene: MAST3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v5.8 MAST3 Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Early onset or syndromic epilepsy v5.8 MAST3 Sarah Leigh Gene: mast3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v5.7 MAST3 Sarah Leigh Tag Q2_24_promote_green tag was added to gene: MAST3.
Tag Q2_24_MOI tag was added to gene: MAST3.
Early onset or syndromic epilepsy v5.7 MAST3 Sarah Leigh gene: MAST3 was added
gene: MAST3 was added to Early onset or syndromic epilepsy. Sources: Literature
Mode of inheritance for gene: MAST3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAST3 were set to 34185323
Mode of pathogenicity for gene: MAST3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: MAST3 was set to GREEN
Added comment: MAST3 variants have been associated with Developmental and epileptic encephalopathy 108 (OMIM:620115). PMID:34185323 reports five de novo missense MAST3 variants in eleven unrelated individuals with developmental and epileptic encephalopathy, with a range of seizure types. Functional studies suggest that the MAST3 variants have a gain-of-function effect.
Sources: Literature
Paediatric or syndromic cardiomyopathy v4.3 NEXN Hannah Robinson reviewed gene: NEXN: Rating: ; Mode of pathogenicity: None; Publications: 35166435, 33949776, 33027564, 32058062; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Limb disorders v5.4 FBXW11 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 SLC5A6 Eleanor Williams changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remainsred.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains red.
Early onset or syndromic epilepsy v5.6 ZBTB47 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 U2AF2 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 TRIT1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 TMEM63B Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 SHQ1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 SHQ1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 SCN8A Eleanor Williams changed review comment from: The mode of inheritance of this gene has been updated to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 RAB5C Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 PTCD3 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 PPP1R3F Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'X-LINKED: hemizygous mutation in males, biallelic mutations in females'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, biallelic mutations in females' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 PLA2G6 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 PIP5K1C Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 PIGM Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 PABPC1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 MAST4 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 LETM1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 KDM6B Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 KCNH5 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 HECTD4 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 ESAM Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 EIF4A2 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 DNAJC6 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 CRELD1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 ATP6V0C Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 ASL Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 ARF3 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 AGO1 Eleanor Williams changed review comment from: The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 CNOT9 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 ATP6V0C Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 ASL Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 ARF3 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 AGO1 Eleanor Williams changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Early onset or syndromic epilepsy v5.6 CACNB4 Eleanor Williams edited their review of gene: CACNB4: Changed rating: RED
Early onset or syndromic epilepsy v5.6 CACNB4 Eleanor Williams changed review comment from: The rating of this gene has been updated from green to redfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated from green to red following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 RETREG1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RETREG1.
Tag Q4_23_NHS_review was removed from gene: RETREG1.
Childhood onset hereditary spastic paraplegia v5.3 RETREG1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 PPFIBP1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 PPFIBP1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PPFIBP1.
Childhood onset hereditary spastic paraplegia v5.3 HECTD4 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HECTD4.
Childhood onset hereditary spastic paraplegia v5.3 HECTD4 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 CLDN11 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CLDN11.
Childhood onset hereditary spastic paraplegia v5.3 CLDN11 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 UCHL1 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: UCHL1.
Childhood onset hereditary spastic paraplegia v5.3 UCHL1 Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated toBOTH monoallelic and biallelic, autosomal or pseudoautosomalfollowing NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 LETM1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 LETM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1.
Tag Q3_23_MOI was removed from gene: LETM1.
Childhood onset hereditary spastic paraplegia v5.3 AMFR Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AMFR.
Childhood onset hereditary spastic paraplegia v5.3 AMFR Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 UCHL1 Achchuthan Shanmugasundram reviewed gene: UCHL1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v5.3 RETREG1 Achchuthan Shanmugasundram commented on gene: RETREG1: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 PPFIBP1 Achchuthan Shanmugasundram commented on gene: PPFIBP1: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 LETM1 Achchuthan Shanmugasundram reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v5.3 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 CLDN11 Achchuthan Shanmugasundram commented on gene: CLDN11: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.3 AMFR Achchuthan Shanmugasundram commented on gene: AMFR: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset hereditary spastic paraplegia v5.2 UCHL1 Achchuthan Shanmugasundram Mode of inheritance for gene UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood onset hereditary spastic paraplegia v5.2 RETREG1 Achchuthan Shanmugasundram Source Expert Review Green was added to RETREG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v5.2 PPFIBP1 Achchuthan Shanmugasundram Source NHS GMS was added to PPFIBP1.
Source Expert Review Green was added to PPFIBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v5.2 LETM1 Achchuthan Shanmugasundram Source NHS GMS was added to LETM1.
Source Expert Review Green was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v5.2 HECTD4 Achchuthan Shanmugasundram Source Expert Review Green was added to HECTD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v5.2 CLDN11 Achchuthan Shanmugasundram Source NHS GMS was added to CLDN11.
Source Expert Review Green was added to CLDN11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v5.2 AMFR Achchuthan Shanmugasundram Source NHS GMS was added to AMFR.
Source Expert Review Green was added to AMFR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.3 AFG3L2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: AFG3L2.
Childhood onset dystonia, chorea or related movement disorder v4.3 AFG3L2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated from green toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated from green to amber following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SHQ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SHQ1.
Childhood onset dystonia, chorea or related movement disorder v4.3 SHQ1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 ASL Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ASL.
Tag Q4_23_NHS_review was removed from gene: ASL.
Childhood onset dystonia, chorea or related movement disorder v4.3 ASL Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 ARX Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ARX.
Childhood onset dystonia, chorea or related movement disorder v4.3 ARX Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 OCLN Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: OCLN.
Tag Q3_23_demote_red was removed from gene: OCLN.
Childhood onset dystonia, chorea or related movement disorder v4.3 OCLN Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated from green toredfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated from green to red following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 TSPOAP1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TSPOAP1.
Childhood onset dystonia, chorea or related movement disorder v4.3 TSPOAP1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 TMEM151A Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 TMEM151A Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TMEM151A.
Tag Q3_23_NHS_review was removed from gene: TMEM151A.
Childhood onset dystonia, chorea or related movement disorder v4.3 TBC1D24 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TBC1D24.
Childhood onset dystonia, chorea or related movement disorder v4.3 TBC1D24 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SYT1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SYT1.
Childhood onset dystonia, chorea or related movement disorder v4.3 SYT1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SQSTM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SQSTM1.
Childhood onset dystonia, chorea or related movement disorder v4.3 SQSTM1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC30A9 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SLC30A9.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC30A9 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC18A2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SLC18A2.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC18A2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 L2HGDH Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: L2HGDH.
Childhood onset dystonia, chorea or related movement disorder v4.3 L2HGDH Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 KCNQ2 Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: KCNQ2.
Tag Q3_23_demote_red was removed from gene: KCNQ2.
Childhood onset dystonia, chorea or related movement disorder v4.3 DNAJC6 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DNAJC6.
Childhood onset dystonia, chorea or related movement disorder v4.3 DNAJC6 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 KCNQ2 Achchuthan Shanmugasundram commented on gene: KCNQ2
Childhood onset dystonia, chorea or related movement disorder v4.3 TSPOAP1 Achchuthan Shanmugasundram reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 TMEM151A Achchuthan Shanmugasundram commented on gene: TMEM151A: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 TBC1D24 Achchuthan Shanmugasundram commented on gene: TBC1D24: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SYT1 Achchuthan Shanmugasundram commented on gene: SYT1: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SQSTM1 Achchuthan Shanmugasundram commented on gene: SQSTM1: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC30A9 Achchuthan Shanmugasundram commented on gene: SLC30A9: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SLC18A2 Achchuthan Shanmugasundram commented on gene: SLC18A2: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 SHQ1 Achchuthan Shanmugasundram reviewed gene: SHQ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 OCLN Achchuthan Shanmugasundram reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v4.3 L2HGDH Achchuthan Shanmugasundram commented on gene: L2HGDH: The rating of this gene has been updated togreenand the mode of inheritance set to'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Childhood onset dystonia, chorea or related movement disorder v4.3 DNAJC6 Achchuthan Shanmugasundram reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 ASL Achchuthan Shanmugasundram reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder v4.3 ARX Achchuthan Shanmugasundram reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Childhood onset dystonia, chorea or related movement disorder v4.3 AFG3L2 Achchuthan Shanmugasundram reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood onset dystonia, chorea or related movement disorder v4.2 TSPOAP1 Achchuthan Shanmugasundram Source Expert Review Green was added to TSPOAP1.
Source NHS GMS was added to TSPOAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 TMEM151A Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM151A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 TBC1D24 Achchuthan Shanmugasundram Source Expert Review Green was added to TBC1D24.
Source NHS GMS was added to TBC1D24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 SYT1 Achchuthan Shanmugasundram Source Expert Review Green was added to SYT1.
Source NHS GMS was added to SYT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 SQSTM1 Achchuthan Shanmugasundram Source Expert Review Green was added to SQSTM1.
Source NHS GMS was added to SQSTM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 SLC30A9 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC30A9.
Source NHS GMS was added to SLC30A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 SLC18A2 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC18A2.
Source NHS GMS was added to SLC18A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 SHQ1 Achchuthan Shanmugasundram Source Expert Review Green was added to SHQ1.
Source NHS GMS was added to SHQ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 OCLN Achchuthan Shanmugasundram Source Expert Review Red was added to OCLN.
Source NHS GMS was added to OCLN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 L2HGDH Achchuthan Shanmugasundram Source Expert Review Green was added to L2HGDH.
Source NHS GMS was added to L2HGDH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 DNAJC6 Achchuthan Shanmugasundram Source Expert Review Green was added to DNAJC6.
Source NHS GMS was added to DNAJC6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 ASL Achchuthan Shanmugasundram Source Expert Review Green was added to ASL.
Source NHS GMS was added to ASL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 ARX Achchuthan Shanmugasundram Source Expert Review Green was added to ARX.
Source NHS GMS was added to ARX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Childhood onset dystonia, chorea or related movement disorder v4.2 AFG3L2 Achchuthan Shanmugasundram Source NHS GMS was added to AFG3L2.
Source Expert Review Amber was added to AFG3L2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Arthrogryposis v6.3 ACTC1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ACTC1.
Arthrogryposis v6.3 ACTC1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Arthrogryposis v6.3 ACTC1 Achchuthan Shanmugasundram commented on gene: ACTC1: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.
Arthrogryposis v6.2 ACTC1 Achchuthan Shanmugasundram Source NHS GMS was added to ACTC1.
Source Expert Review Green was added to ACTC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v4.3 RNASET2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: RNASET2.
Adult onset leukodystrophy v4.3 RNASET2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 POLR1C Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: POLR1C.
Adult onset leukodystrophy v4.3 POLR1C Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 MARS Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: MARS.
Adult onset leukodystrophy v4.3 MARS Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 COL4A2 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: COL4A2.
Adult onset leukodystrophy v4.3 AARS Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: AARS.
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram Tag Q4_23_demote_amber was removed from gene: OCRL.
Tag Q4_23_expert_review was removed from gene: OCRL.
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 HMGCL Achchuthan Shanmugasundram Tag Q4_23_demote_amber was removed from gene: HMGCL.
Tag Q4_23_expert_review was removed from gene: HMGCL.
Adult onset leukodystrophy v4.3 HMGCL Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 RPS6KA3 Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: RPS6KA3.
Tag Q3_23_demote_red was removed from gene: RPS6KA3.
Adult onset leukodystrophy v4.3 RPS6KA3 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toredfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Adult onset leukodystrophy v4.3 RNF216 Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: RNF216.
Tag Q3_23_demote_amber was removed from gene: RNF216.
Adult onset leukodystrophy v4.3 GCDH Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: GCDH.
Tag Q3_23_MOI was removed from gene: GCDH.
Adult onset leukodystrophy v4.3 GCDH Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to greenand the mode of inheritance set to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Adult onset neurodegenerative disorder v5.3 DNAJC7 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: DNAJC7.
Adult onset neurodegenerative disorder v5.3 GBA Achchuthan Shanmugasundram reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v5.3 DNAJC7 Achchuthan Shanmugasundram reviewed gene: DNAJC7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset leukodystrophy v4.3 RPS6KA3 Achchuthan Shanmugasundram reviewed gene: RPS6KA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 RNF216 Achchuthan Shanmugasundram commented on gene: RNF216
Adult onset leukodystrophy v4.3 RNASET2 Achchuthan Shanmugasundram reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 POLR1C Achchuthan Shanmugasundram reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 OCRL Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 MARS Achchuthan Shanmugasundram reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 HMGCL Achchuthan Shanmugasundram reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset leukodystrophy v4.3 COL4A2 Achchuthan Shanmugasundram commented on gene: COL4A2
Adult onset leukodystrophy v4.3 AARS Achchuthan Shanmugasundram commented on gene: AARS
Adult onset leukodystrophy v4.3 GCDH Achchuthan Shanmugasundram reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v5.2 GBA Achchuthan Shanmugasundram Source Expert Review Green was added to GBA.
Mode of inheritance for gene GBA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v5.2 DNAJC7 Achchuthan Shanmugasundram Source NHS GMS was added to DNAJC7.
Source Expert Review Green was added to DNAJC7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset leukodystrophy v4.2 RPS6KA3 Achchuthan Shanmugasundram Source Expert Review Red was added to RPS6KA3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Adult onset leukodystrophy v4.2 RNASET2 Achchuthan Shanmugasundram Source Expert Review Amber was added to RNASET2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 POLR1C Achchuthan Shanmugasundram Source Expert Review Amber was added to POLR1C.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 OCRL Achchuthan Shanmugasundram Source Expert Review Amber was added to OCRL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 MARS Achchuthan Shanmugasundram Source Expert Review Amber was added to MARS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 HMGCL Achchuthan Shanmugasundram Source Expert Review Amber was added to HMGCL.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset leukodystrophy v4.2 GCDH Achchuthan Shanmugasundram Source NHS GMS was added to GCDH.
Source Expert Review Green was added to GCDH.
Mode of inheritance for gene GCDH was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v4.3 UCHL1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: UCHL1.
Tag Q3_23_MOI was removed from gene: UCHL1.
Adult onset hereditary spastic paraplegia v4.3 UCHL1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v4.3 PRNP Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PRNP.
Adult onset hereditary spastic paraplegia v4.3 PRNP Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Adult onset hereditary spastic paraplegia v4.3 AP4S1 Achchuthan Shanmugasundram Tag for-review was removed from gene: AP4S1.
Tag to_be_confirmed_NHSE was removed from gene: AP4S1.
Adult onset hereditary spastic paraplegia v4.3 AP4S1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.
Adult onset hereditary spastic paraplegia v4.3 AP4M1 Achchuthan Shanmugasundram Tag for-review was removed from gene: AP4M1.
Tag to_be_confirmed_NHSE was removed from gene: AP4M1.
Adult onset hereditary spastic paraplegia v4.3 AP4M1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.
Adult onset hereditary spastic paraplegia v4.3 AP4B1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.
Adult onset hereditary spastic paraplegia v4.3 AP4E1 Achchuthan Shanmugasundram Tag for-review was removed from gene: AP4E1.
Tag to_be_confirmed_NHSE was removed from gene: AP4E1.
Adult onset hereditary spastic paraplegia v4.3 AP4E1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.
Adult onset hereditary spastic paraplegia v4.3 AP4B1 Achchuthan Shanmugasundram Tag for-review was removed from gene: AP4B1.
Tag to_be_confirmed_NHSE was removed from gene: AP4B1.
Adult onset hereditary spastic paraplegia v4.3 AP4B1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toamberfollowing NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.; to: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval. The associated phenotype has childhood onset.
Adult onset hereditary spastic paraplegia v4.3 UCHL1 Achchuthan Shanmugasundram reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v4.3 PRNP Achchuthan Shanmugasundram reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v4.3 AP4S1 Achchuthan Shanmugasundram reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v4.3 AP4M1 Achchuthan Shanmugasundram reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v4.3 AP4E1 Achchuthan Shanmugasundram reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v4.3 AP4B1 Achchuthan Shanmugasundram reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v4.2 UCHL1 Achchuthan Shanmugasundram Source Expert Review Green was added to UCHL1.
Mode of inheritance for gene UCHL1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v4.2 PRNP Achchuthan Shanmugasundram Source Expert Review Green was added to PRNP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v4.2 AP4S1 Achchuthan Shanmugasundram Source Expert Review Amber was added to AP4S1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v4.2 AP4M1 Achchuthan Shanmugasundram Source Expert Review Amber was added to AP4M1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v4.2 AP4E1 Achchuthan Shanmugasundram Source Expert Review Amber was added to AP4E1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v4.2 AP4B1 Achchuthan Shanmugasundram Source Expert Review Amber was added to AP4B1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Adult onset dystonia, chorea or related movement disorder v3.19 GBA Achchuthan Shanmugasundram reviewed gene: GBA: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v3.19 GBA Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: GBA.
Adult onset dystonia, chorea or related movement disorder v3.19 GBA Achchuthan Shanmugasundram Mode of inheritance for gene GBA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v5.3 TNFRSF11A Achchuthan Shanmugasundram Tag for-review was removed from gene: TNFRSF11A.
Tag to_be_confirmed_NHSE was removed from gene: TNFRSF11A.
Skeletal dysplasia v5.3 TNFRSF11A Achchuthan Shanmugasundram changed review comment from: The mode of inheritance of this gene has been updated to'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 ANAPC1 Achchuthan Shanmugasundram Tag for-review was removed from gene: ANAPC1.
Tag to_be_confirmed_NHSE was removed from gene: ANAPC1.
Skeletal dysplasia v5.3 ANAPC1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 UBA2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 UBA2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: UBA2.
Tag Q4_23_NHS_review was removed from gene: UBA2.
Skeletal dysplasia v5.3 PSMC3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PSMC3.
Skeletal dysplasia v5.3 PSMC3 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 ERI1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 FBXW11 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: FBXW11.
Tag Q4_23_NHS_review was removed from gene: FBXW11.
Skeletal dysplasia v5.3 FBXW11 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 ERI1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ERI1.
Tag Q4_23_NHS_review was removed from gene: ERI1.
Skeletal dysplasia v5.3 AXIN1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: AXIN1.
Skeletal dysplasia v5.3 AXIN1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 SETD5 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SETD5.
Tag Q3_23_NHS_review was removed from gene: SETD5.
Skeletal dysplasia v5.3 SETD5 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 UBA2 Achchuthan Shanmugasundram reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v5.3 TNFRSF11A Achchuthan Shanmugasundram reviewed gene: TNFRSF11A: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v5.3 SETD5 Achchuthan Shanmugasundram commented on gene: SETD5: The rating of this gene has been updated togreenand the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 PSMC3 Achchuthan Shanmugasundram commented on gene: PSMC3: The rating of this gene has been updated togreenand the mode of inheritance updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted'following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 FBXW11 Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia v5.3 ERI1 Achchuthan Shanmugasundram commented on gene: ERI1: The rating of this gene has been updated togreenand the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 AXIN1 Achchuthan Shanmugasundram commented on gene: AXIN1: The rating of this gene has been updated togreenand the mode of inheritance updated to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.
Skeletal dysplasia v5.3 ANAPC1 Achchuthan Shanmugasundram reviewed gene: ANAPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v5.2 UBA2 Achchuthan Shanmugasundram Source NHS GMS was added to UBA2.
Source Expert Review Green was added to UBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v5.2 TNFRSF11A Achchuthan Shanmugasundram Mode of inheritance for gene TNFRSF11A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v5.2 SETD5 Achchuthan Shanmugasundram Source Expert Review Green was added to SETD5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v5.2 PSMC3 Achchuthan Shanmugasundram Source NHS GMS was added to PSMC3.
Source Expert Review Green was added to PSMC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v5.2 FBXW11 Achchuthan Shanmugasundram Source NHS GMS was added to FBXW11.
Source Expert Review Green was added to FBXW11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v5.2 ERI1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v5.2 AXIN1 Achchuthan Shanmugasundram Source NHS GMS was added to AXIN1.
Source Expert Review Green was added to AXIN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal dysplasia v5.2 ANAPC1 Achchuthan Shanmugasundram Source NHS GMS was added to ANAPC1.
Source Expert Review Green was added to ANAPC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Skeletal ciliopathies v4.3 KIAA0586 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated togreenand the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal'following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.
Skeletal ciliopathies v4.3 KIAA0586 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KIAA0586.
Skeletal ciliopathies v4.3 PMM2 Achchuthan Shanmugasundram Tag Q3_23_expert_review was removed from gene: PMM2.
Tag Q3_23_demote_red was removed from gene: PMM2.
Skeletal ciliopathies v4.3 PMM2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated to redfollowing NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Skeletal ciliopathies v4.3 PMM2 Achchuthan Shanmugasundram reviewed gene: PMM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Skeletal ciliopathies v4.3 KIAA0586 Achchuthan Shanmugasundram reviewed gene: KIAA0586: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v4.2 PMM2 Achchuthan Shanmugasundram Source Expert Review Red was added to PMM2.
Source NHS GMS was added to PMM2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Skeletal ciliopathies v4.2 KIAA0586 Achchuthan Shanmugasundram Source Expert Review Green was added to KIAA0586.
Source NHS GMS was added to KIAA0586.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Limb disorders v5.4 FBXW11 Achchuthan Shanmugasundram Tag Q4_21_NHS_review was removed from gene: FBXW11.
Tag Q4_23_promote_green was removed from gene: FBXW11.
Limb disorders v5.4 FBXW11 Eleanor Williams edited their review of gene: FBXW11: Added comment: The rating of this gene has been updated togreenand the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown'following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Limb disorders v5.3 FBXW11 Achchuthan Shanmugasundram Source NHS GMS was added to FBXW11.
Source Expert Review Green was added to FBXW11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.3 SLC6A20 Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: SLC6A20.
Tag Q4_23_expert_review was removed from gene: SLC6A20.
Likely inborn error of metabolism v5.3 VPS33A Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: VPS33A.
Likely inborn error of metabolism v5.3 VPS16 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: VPS16.
Likely inborn error of metabolism v5.3 SEC23B Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: SEC23B.
Likely inborn error of metabolism v5.3 PTCD3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PTCD3.
Likely inborn error of metabolism v5.3 PIGM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PIGM.
Tag Q4_23_NHS_review was removed from gene: PIGM.
Likely inborn error of metabolism v5.3 NUS1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NUS1.
Likely inborn error of metabolism v5.3 MRM2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MRM2.
Likely inborn error of metabolism v5.3 LMF1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: LMF1.
Likely inborn error of metabolism v5.3 HSPA9 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HSPA9.
Tag Q4_23_NHS_review was removed from gene: HSPA9.
Likely inborn error of metabolism v5.3 GRN Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: GRN.
Likely inborn error of metabolism v5.3 GPIHBP1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: GPIHBP1.
Likely inborn error of metabolism v5.3 EDEM3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: EDEM3.
Likely inborn error of metabolism v5.3 CTSF Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CTSF.
Likely inborn error of metabolism v5.3 COX5A Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: COX5A.
Likely inborn error of metabolism v5.3 ATP5E Achchuthan Shanmugasundram Tag new-gene-name was removed from gene: ATP5E.
Tag Q4_23_promote_green was removed from gene: ATP5E.
Likely inborn error of metabolism v5.3 ACACA Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ACACA.
Tag Q4_23_NHS_review was removed from gene: ACACA.
Likely inborn error of metabolism v5.3 VPS33A Sarah Leigh commented on gene: VPS33A: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v5.3 VPS16 Sarah Leigh commented on gene: VPS16: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v5.3 SLC6A20 Sarah Leigh commented on gene: SLC6A20: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. Comment from GMS: 'Demotion of a green gene - disease association refuted in OMIM, as the single variant has been classified as common in gnomAD database.'
Likely inborn error of metabolism v5.3 SEC23B Sarah Leigh reviewed gene: SEC23B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 PTCD3 Sarah Leigh edited their review of gene: PTCD3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 PIGM Sarah Leigh edited their review of gene: PIGM: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 NUS1 Sarah Leigh reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Likely inborn error of metabolism v5.3 MRM2 Sarah Leigh edited their review of gene: MRM2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 LMF1 Sarah Leigh commented on gene: LMF1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v5.3 HSPA9 Sarah Leigh edited their review of gene: HSPA9: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 GRN Sarah Leigh edited their review of gene: GRN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 GPIHBP1 Sarah Leigh commented on gene: GPIHBP1: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v5.3 EDEM3 Sarah Leigh commented on gene: EDEM3: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Likely inborn error of metabolism v5.3 CTSF Sarah Leigh edited their review of gene: CTSF: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 COX5A Sarah Leigh edited their review of gene: COX5A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 ATP5E Sarah Leigh edited their review of gene: ATP5E: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.3 ACACA Sarah Leigh edited their review of gene: ACACA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.2 VPS33A Achchuthan Shanmugasundram Source Expert Review Green was added to VPS33A.
Source NHS GMS was added to VPS33A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 VPS16 Achchuthan Shanmugasundram Source Expert Review Green was added to VPS16.
Source NHS GMS was added to VPS16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 SLC6A20 Achchuthan Shanmugasundram Source Expert Review Red was added to SLC6A20.
Source NHS GMS was added to SLC6A20.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Likely inborn error of metabolism v5.2 SEC23B Achchuthan Shanmugasundram Mode of inheritance for gene SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v5.2 PTCD3 Achchuthan Shanmugasundram Source Expert Review Green was added to PTCD3.
Source NHS GMS was added to PTCD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 PIGM Achchuthan Shanmugasundram Source Expert Review Green was added to PIGM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 NUS1 Achchuthan Shanmugasundram Source Expert Review Green was added to NUS1.
Source NHS GMS was added to NUS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 MRM2 Achchuthan Shanmugasundram Source Expert Review Green was added to MRM2.
Source NHS GMS was added to MRM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 LMF1 Achchuthan Shanmugasundram Source Expert Review Green was added to LMF1.
Source NHS GMS was added to LMF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 HSPA9 Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9.
Source NHS GMS was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 GRN Achchuthan Shanmugasundram Source Expert Review Green was added to GRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 GPIHBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to GPIHBP1.
Source NHS GMS was added to GPIHBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 EDEM3 Achchuthan Shanmugasundram Source Expert Review Green was added to EDEM3.
Source NHS GMS was added to EDEM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 CTSF Achchuthan Shanmugasundram Source Expert Review Green was added to CTSF.
Source NHS GMS was added to CTSF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 COX5A Achchuthan Shanmugasundram Source Expert Review Green was added to COX5A.
Source NHS GMS was added to COX5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 ATP5E Achchuthan Shanmugasundram Source Expert Review Green was added to ATP5E.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v5.2 ACACA Achchuthan Shanmugasundram Source Expert Review Green was added to ACACA.
Source NHS GMS was added to ACACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Congenital disorders of glycosylation v5.3 SEC23B Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: SEC23B.
Congenital disorders of glycosylation v5.3 PIGM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PIGM.
Congenital disorders of glycosylation v5.3 SEC23B Sarah Leigh edited their review of gene: SEC23B: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v5.3 PIGM Sarah Leigh edited their review of gene: PIGM: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v5.2 SEC23B Achchuthan Shanmugasundram Source NHS GMS was added to SEC23B.
Mode of inheritance for gene SEC23B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Congenital disorders of glycosylation v5.2 PIGM Achchuthan Shanmugasundram Source Expert Review Green was added to PIGM.
Source NHS GMS was added to PIGM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SPI1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SPI1.
Tag Q4_23_NHS_review was removed from gene: SPI1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 TRAF3IP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TRAF3IP2.
Tag Q4_23_NHS_review was removed from gene: TRAF3IP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 TFRC Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TFRC.
Tag Q4_23_NHS_review was removed from gene: TFRC.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 STAT6 Achchuthan Shanmugasundram Tag watchlist was removed from gene: STAT6.
Tag Q4_23_promote_green was removed from gene: STAT6.
Tag treatable tag was added to gene: STAT6.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SEC61A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SEC61A1.
Tag Q4_23_NHS_review was removed from gene: SEC61A1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SAMD9L Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SAMD9L.
Tag Q4_23_NHS_review was removed from gene: SAMD9L.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 RELA Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RELA.
Tag Q4_23_NHS_review was removed from gene: RELA.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 REL Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: REL.
Tag Q4_23_NHS_review was removed from gene: REL.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 RANBP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RANBP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 PTPN2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PTPN2.
Tag Q4_23_NHS_review was removed from gene: PTPN2.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 PSMB10 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PSMB10.
Tag Q4_23_NHS_review was removed from gene: PSMB10.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 POLD1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: POLD1.
Tag Q4_23_NHS_review was removed from gene: POLD1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 NLRP1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NLRP1.
Tag Q4_23_NHS_review was removed from gene: NLRP1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 NFAT5 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NFAT5.
Tag Q4_23_NHS_review was removed from gene: NFAT5.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 MECOM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MECOM.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 MCTS1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MCTS1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 LYN Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: LYN.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 JAK1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: JAK1.
Tag Q4_23_NHS_review was removed from gene: JAK1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 IRF4 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: IRF4.
Tag Q4_23_NHS_review was removed from gene: IRF4.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 IRF2BP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: IRF2BP2.
Tag Q4_23_NHS_review was removed from gene: IRF2BP2.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 IL23R Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: IL23R.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 HYOU1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HYOU1.
Tag Q4_23_NHS_review was removed from gene: HYOU1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 HMOX1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HMOX1.
Tag Q4_23_NHS_review was removed from gene: HMOX1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DUT Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: DUT.
Tag Q4_23_NHS_review was removed from gene: DUT.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CXCR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CXCR2.
Tag Q4_23_NHS_review was removed from gene: CXCR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CR2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CR2.
Tag Q4_23_NHS_review was removed from gene: CR2.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CD81 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CD81.
Tag Q4_23_NHS_review was removed from gene: CD81.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CD4 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CD4.
Tag Q4_23_NHS_review was removed from gene: CD4.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CBLB Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CBLB.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 AICDA Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: AICDA.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 OTULIN Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: OTULIN.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DOCK11 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DOCK11.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DIAPH1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DIAPH1.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 ARPC5 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ARPC5.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DCLRE1B Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: DCLRE1B.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 STAT5B Achchuthan Shanmugasundram Tag for-review was removed from gene: STAT5B.
Tag to_be_confirmed_NHSE was removed from gene: STAT5B.
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 TRAF3IP2 Sarah Leigh reviewed gene: TRAF3IP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 TFRC Sarah Leigh reviewed gene: TFRC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 STAT6 Sarah Leigh reviewed gene: STAT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 STAT5B Sarah Leigh reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SPI1 Sarah Leigh reviewed gene: SPI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SEC61A1 Sarah Leigh reviewed gene: SEC61A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 SAMD9L Sarah Leigh reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 RELA Sarah Leigh reviewed gene: RELA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 REL Sarah Leigh reviewed gene: REL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 RANBP2 Sarah Leigh reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 PTPN2 Sarah Leigh reviewed gene: PTPN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 PSMB10 Sarah Leigh edited their review of gene: PSMB10: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 POLD1 Sarah Leigh reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 OTULIN Sarah Leigh edited their review of gene: OTULIN: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 NLRP1 Sarah Leigh reviewed gene: NLRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 NFAT5 Sarah Leigh edited their review of gene: NFAT5: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 MECOM Sarah Leigh reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 MCTS1 Sarah Leigh reviewed gene: MCTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 LYN Sarah Leigh reviewed gene: LYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 JAK1 Sarah Leigh reviewed gene: JAK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 IRF4 Sarah Leigh reviewed gene: IRF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 IRF2BP2 Sarah Leigh reviewed gene: IRF2BP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 IL23R Sarah Leigh reviewed gene: IL23R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 HYOU1 Sarah Leigh reviewed gene: HYOU1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 HMOX1 Sarah Leigh reviewed gene: HMOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DUT Sarah Leigh reviewed gene: DUT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DOCK11 Sarah Leigh reviewed gene: DOCK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DIAPH1 Sarah Leigh reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 DCLRE1B Sarah Leigh reviewed gene: DCLRE1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CXCR2 Sarah Leigh reviewed gene: CXCR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CR2 Sarah Leigh edited their review of gene: CR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CD81 Sarah Leigh reviewed gene: CD81: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CD4 Sarah Leigh reviewed gene: CD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 CBLB Sarah Leigh reviewed gene: CBLB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 ARPC5 Sarah Leigh reviewed gene: ARPC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.3 AICDA Sarah Leigh reviewed gene: AICDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 TRAF3IP2 Achchuthan Shanmugasundram Source NHS GMS was added to TRAF3IP2.
Source Expert Review Green was added to TRAF3IP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 TFRC Achchuthan Shanmugasundram Source NHS GMS was added to TFRC.
Source Expert Review Green was added to TFRC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 STAT6 Achchuthan Shanmugasundram Source NHS GMS was added to STAT6.
Source Expert Review Green was added to STAT6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 STAT5B Achchuthan Shanmugasundram Mode of inheritance for gene STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 SPI1 Achchuthan Shanmugasundram Source NHS GMS was added to SPI1.
Source Expert Review Green was added to SPI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 SEC61A1 Achchuthan Shanmugasundram Source NHS GMS was added to SEC61A1.
Source Expert Review Green was added to SEC61A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 SAMD9L Achchuthan Shanmugasundram Source Expert Review Green was added to SAMD9L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 RELA Achchuthan Shanmugasundram Source NHS GMS was added to RELA.
Source Expert Review Green was added to RELA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 REL Achchuthan Shanmugasundram Source NHS GMS was added to REL.
Source Expert Review Green was added to REL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 RANBP2 Achchuthan Shanmugasundram Source Expert Review Green was added to RANBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 PTPN2 Achchuthan Shanmugasundram Source NHS GMS was added to PTPN2.
Source Expert Review Green was added to PTPN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 PSMB10 Achchuthan Shanmugasundram Source NHS GMS was added to PSMB10.
Source Expert Review Green was added to PSMB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 POLD1 Achchuthan Shanmugasundram Source NHS GMS was added to POLD1.
Source Expert Review Green was added to POLD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 OTULIN Achchuthan Shanmugasundram Mode of inheritance for gene OTULIN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 NLRP1 Achchuthan Shanmugasundram Source Expert Review Green was added to NLRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 NFAT5 Achchuthan Shanmugasundram Source NHS GMS was added to NFAT5.
Source Expert Review Green was added to NFAT5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 MECOM Achchuthan Shanmugasundram Source NHS GMS was added to MECOM.
Source Expert Review Green was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 MCTS1 Achchuthan Shanmugasundram Source NHS GMS was added to MCTS1.
Source Expert Review Green was added to MCTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 LYN Achchuthan Shanmugasundram Source NHS GMS was added to LYN.
Source Expert Review Green was added to LYN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 JAK1 Achchuthan Shanmugasundram Source NHS GMS was added to JAK1.
Source Expert Review Green was added to JAK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 IRF4 Achchuthan Shanmugasundram Source NHS GMS was added to IRF4.
Source Expert Review Green was added to IRF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 IRF2BP2 Achchuthan Shanmugasundram Source NHS GMS was added to IRF2BP2.
Source Expert Review Green was added to IRF2BP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 IL23R Achchuthan Shanmugasundram Source NHS GMS was added to IL23R.
Source Expert Review Green was added to IL23R.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 HYOU1 Achchuthan Shanmugasundram Source NHS GMS was added to HYOU1.
Source Expert Review Green was added to HYOU1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 HMOX1 Achchuthan Shanmugasundram Source NHS GMS was added to HMOX1.
Source Expert Review Green was added to HMOX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 DUT Achchuthan Shanmugasundram Source NHS GMS was added to DUT.
Source Expert Review Green was added to DUT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 DOCK11 Achchuthan Shanmugasundram Source NHS GMS was added to DOCK11.
Source Expert Review Green was added to DOCK11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 DIAPH1 Achchuthan Shanmugasundram Source NHS GMS was added to DIAPH1.
Source Expert Review Green was added to DIAPH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 DCLRE1B Achchuthan Shanmugasundram Source Expert Review Amber was added to DCLRE1B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 CXCR2 Achchuthan Shanmugasundram Source NHS GMS was added to CXCR2.
Source Expert Review Green was added to CXCR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 CR2 Achchuthan Shanmugasundram Source NHS GMS was added to CR2.
Source Expert Review Green was added to CR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 CD81 Achchuthan Shanmugasundram Source NHS GMS was added to CD81.
Source Expert Review Green was added to CD81.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 CD4 Achchuthan Shanmugasundram Source NHS GMS was added to CD4.
Source Expert Review Green was added to CD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 CBLB Achchuthan Shanmugasundram Source NHS GMS was added to CBLB.
Source Expert Review Green was added to CBLB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 ARPC5 Achchuthan Shanmugasundram Source NHS GMS was added to ARPC5.
Source Expert Review Green was added to ARPC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v5.2 AICDA Achchuthan Shanmugasundram Mode of inheritance for gene AICDA was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sickle cell, thalassaemia and other haemoglobinopathies v1.9 HBG2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBG2.
Sickle cell, thalassaemia and other haemoglobinopathies v1.9 HBG1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBG1.
Sickle cell, thalassaemia and other haemoglobinopathies v1.9 HBA2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBA2.
Sickle cell, thalassaemia and other haemoglobinopathies v1.9 HBG2 Sarah Leigh reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sickle cell, thalassaemia and other haemoglobinopathies v1.9 HBG1 Sarah Leigh reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sickle cell, thalassaemia and other haemoglobinopathies v1.9 HBA2 Sarah Leigh reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sickle cell, thalassaemia and other haemoglobinopathies v1.8 HBG2 Achchuthan Shanmugasundram Source Expert Review Green was added to HBG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Sickle cell, thalassaemia and other haemoglobinopathies v1.8 HBG1 Achchuthan Shanmugasundram Source Expert Review Green was added to HBG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Sickle cell, thalassaemia and other haemoglobinopathies v1.8 HBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to HBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.9 HBG2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBG2.
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.9 HBG1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBG1.
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.9 HBA2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: HBA2.
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.9 HBG2 Sarah Leigh reviewed gene: HBG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.9 HBG1 Sarah Leigh reviewed gene: HBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.9 HBA2 Sarah Leigh reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.8 HBG2 Achchuthan Shanmugasundram Source Expert Review Green was added to HBG2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.8 HBG1 Achchuthan Shanmugasundram Source Expert Review Green was added to HBG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Sickle cell, thalassaemia and other haemoglobinopathies trait or carrier testing v1.8 HBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to HBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neonatal diabetes v4.6 ONECUT1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: ONECUT1.
Neonatal diabetes v4.6 CNOT1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: CNOT1.
Neonatal diabetes v4.6 ONECUT1 Sarah Leigh reviewed gene: ONECUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neonatal diabetes v4.6 CNOT1 Sarah Leigh reviewed gene: CNOT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neonatal diabetes v4.5 ONECUT1 Achchuthan Shanmugasundram Source NHS GMS was added to ONECUT1.
Source Expert Review Green was added to ONECUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Neonatal diabetes v4.5 CNOT1 Achchuthan Shanmugasundram Source NHS GMS was added to CNOT1.
Source Expert Review Green was added to CNOT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.52 AKT2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AKT2.
Tag Q3_23_NHS_review was removed from gene: AKT2.
Severe insulin resistance and lipodystrophy syndromes v4.52 WRN Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 WRN Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: WRN.
Tag Q3_23_NHS_review was removed from gene: WRN.
Severe insulin resistance and lipodystrophy syndromes v4.52 PSMB8 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PSMB8.
Tag Q3_23_NHS_review was removed from gene: PSMB8.
Severe insulin resistance and lipodystrophy syndromes v4.52 PSMB8 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PSMB4 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PSMB4 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PSMB4.
Tag Q3_23_NHS_review was removed from gene: PSMB4.
Severe insulin resistance and lipodystrophy syndromes v4.52 POC1A Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: POC1A.
Tag Q3_23_NHS_review was removed from gene: POC1A.
Severe insulin resistance and lipodystrophy syndromes v4.52 POC1A Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PIK3R1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PIK3R1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PIK3R1.
Tag Q3_23_NHS_review was removed from gene: PIK3R1.
Severe insulin resistance and lipodystrophy syndromes v4.52 PCYT1A Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PCYT1A Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PCYT1A.
Tag Q3_23_NHS_review was removed from gene: PCYT1A.
Severe insulin resistance and lipodystrophy syndromes v4.52 PCNT Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PCNT.
Tag Q3_23_NHS_review was removed from gene: PCNT.
Severe insulin resistance and lipodystrophy syndromes v4.52 PCNT Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 MFN2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: MFN2.
Tag Q3_23_NHS_review was removed from gene: MFN2.
Severe insulin resistance and lipodystrophy syndromes v4.52 MFN2 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 EPHX1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 EPHX1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: EPHX1.
Tag Q3_23_NHS_review was removed from gene: EPHX1.
Severe insulin resistance and lipodystrophy syndromes v4.52 BLM Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: BLM.
Tag Q3_23_NHS_review was removed from gene: BLM.
Severe insulin resistance and lipodystrophy syndromes v4.52 BLM Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 ALMS1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ALMS1.
Tag Q3_23_NHS_review was removed from gene: ALMS1.
Severe insulin resistance and lipodystrophy syndromes v4.52 ALMS1 Achchuthan Shanmugasundram changed review comment from: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 WRN Achchuthan Shanmugasundram commented on gene: WRN: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PSMB8 Achchuthan Shanmugasundram commented on gene: PSMB8: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PSMB4 Achchuthan Shanmugasundram commented on gene: PSMB4: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 POC1A Achchuthan Shanmugasundram commented on gene: POC1A: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PIK3R1 Achchuthan Shanmugasundram commented on gene: PIK3R1: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PCYT1A Achchuthan Shanmugasundram commented on gene: PCYT1A: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 PCNT Achchuthan Shanmugasundram commented on gene: PCNT: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 MFN2 Achchuthan Shanmugasundram commented on gene: MFN2: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 EPHX1 Achchuthan Shanmugasundram commented on gene: EPHX1: The rating of this gene has been updated toGreenand the mode of inheritance set toMONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 BLM Achchuthan Shanmugasundram commented on gene: BLM: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 ALMS1 Achchuthan Shanmugasundram commented on gene: ALMS1: The rating of this gene has been updated toGreenand the mode of inheritance set toBIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Severe insulin resistance and lipodystrophy syndromes v4.52 AKT2 Achchuthan Shanmugasundram edited their review of gene: AKT2: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. Comment from GMS: 'Should be amber. Another family is needed for AKT2 for this to be upgraded to Green. The two variants used as evidence, p.Arg467Trp and p.Arg208Lys, far too common in gnomAD to be causing a rare AD disorder.'; Changed rating: AMBER
Severe insulin resistance and lipodystrophy syndromes v4.51 WRN Achchuthan Shanmugasundram Source Expert Review Green was added to WRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 PSMB8 Achchuthan Shanmugasundram Source Expert Review Green was added to PSMB8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 PSMB4 Achchuthan Shanmugasundram Source Expert Review Green was added to PSMB4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 POC1A Achchuthan Shanmugasundram Source Expert Review Green was added to POC1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 PIK3R1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIK3R1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 PCYT1A Achchuthan Shanmugasundram Source Expert Review Green was added to PCYT1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 PCNT Achchuthan Shanmugasundram Source Expert Review Green was added to PCNT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 MFN2 Achchuthan Shanmugasundram Source Expert Review Green was added to MFN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 EPHX1 Achchuthan Shanmugasundram Source Expert Review Green was added to EPHX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 BLM Achchuthan Shanmugasundram Source Expert Review Green was added to BLM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe insulin resistance and lipodystrophy syndromes v4.51 ALMS1 Achchuthan Shanmugasundram Source Expert Review Green was added to ALMS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v4.3 NOTCH3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NOTCH3.
Tag Q4_23_expert_review was removed from gene: NOTCH3.
Paediatric disorders - additional genes v4.3 TAB2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TAB2.
Paediatric disorders - additional genes v4.3 TAB2 Sarah Leigh edited their review of gene: TAB2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric disorders - additional genes v4.3 NOTCH3 Sarah Leigh reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric disorders - additional genes v4.2 TAB2 Achchuthan Shanmugasundram Source Expert Review Green was added to TAB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric disorders - additional genes v4.2 NOTCH3 Achchuthan Shanmugasundram Source Expert Review Green was added to NOTCH3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.11 FAM111A Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: FAM111A.
Tag Q4_23_NHS_review was removed from gene: FAM111A.
Tag Q4_23_expert_review was removed from gene: FAM111A.
Intellectual disability v6.11 DPP6 Achchuthan Shanmugasundram Tag Q4_23_demote_red was removed from gene: DPP6.
Tag Q4_23_NHS_review was removed from gene: DPP6.
Tag Q4_23_expert_review was removed from gene: DPP6.
Intellectual disability v6.11 ZBTB47 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ZBTB47.
Intellectual disability v6.11 VCP Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: VCP.
Intellectual disability v6.11 TEFM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TEFM.
Intellectual disability v6.11 SRSF1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SRSF1.
Intellectual disability v6.11 SHQ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SHQ1.
Intellectual disability v6.11 RPL10 Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: RPL10.
Intellectual disability v6.11 RELN Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: RELN.
Intellectual disability v6.11 RBL2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RBL2.
Tag Q4_23_NHS_review was removed from gene: RBL2.
Intellectual disability v6.11 RAP1B Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RAP1B.
Intellectual disability v6.11 MYH10 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MYH10.
Intellectual disability v6.11 MAST4 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MAST4.
Intellectual disability v6.11 KMT2B Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KMT2B.
Intellectual disability v6.11 ERI1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ERI1.
Intellectual disability v6.11 COX11 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: COX11.
Intellectual disability v6.11 CLDN11 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CLDN11.
Intellectual disability v6.11 CLCN6 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CLCN6.
Intellectual disability v6.11 CDK16 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CDK16.
Tag Q4_23_NHS_review was removed from gene: CDK16.
Intellectual disability v6.11 CASP2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: CASP2.
Intellectual disability v6.11 ARF3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ARF3.
Intellectual disability v6.11 ACACA Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ACACA.
Intellectual disability v6.11 FAR1 Achchuthan Shanmugasundram Tag to_be_confirmed_NHSE was removed from gene: FAR1.
Intellectual disability v6.11 U2AF2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: U2AF2.
Tag Q3_23_NHS_review was removed from gene: U2AF2.
Intellectual disability v6.11 TTI1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TTI1.
Intellectual disability v6.11 TSPOAP1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TSPOAP1.
Intellectual disability v6.11 TMEM63B Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TMEM63B.
Intellectual disability v6.11 SLC30A9 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SLC30A9.
Intellectual disability v6.11 RPS6KA3 Achchuthan Shanmugasundram Tag Q3_23_MOI was removed from gene: RPS6KA3.
Intellectual disability v6.11 RAB5C Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: RAB5C.
Intellectual disability v6.11 PSMC3 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PSMC3.
Intellectual disability v6.11 PPP1R3F Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PPP1R3F.
Intellectual disability v6.11 PIP5K1C Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PIP5K1C.
Intellectual disability v6.11 PABPC1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PABPC1.
Tag Q3_23_MOI was removed from gene: PABPC1.
Tag Q3_23_phenotype was removed from gene: PABPC1.
Intellectual disability v6.11 NR2F2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: NR2F2.
Tag Q3_23_NHS_review was removed from gene: NR2F2.
Intellectual disability v6.11 NEUROG1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: NEUROG1.
Tag Q3_23_NHS_review was removed from gene: NEUROG1.
Intellectual disability v6.11 LETM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1.
Tag Q3_23_MOI was removed from gene: LETM1.
Intellectual disability v6.11 KCNH5 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: KCNH5.
Intellectual disability v6.11 ESAM Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ESAM.
Tag Q3_23_NHS_review was removed from gene: ESAM.
Intellectual disability v6.11 EIF4A2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: EIF4A2.
Intellectual disability v6.11 DHX9 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DHX9.
Intellectual disability v6.11 DAGLA Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: DAGLA.
Intellectual disability v6.11 CNOT9 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CNOT9.
Intellectual disability v6.11 ATP6V0C Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ATP6V0C.
Tag Q3_23_NHS_review was removed from gene: ATP6V0C.
Intellectual disability v6.11 AGTPBP1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: AGTPBP1.
Intellectual disability v6.11 ZBTB47 Sarah Leigh edited their review of gene: ZBTB47: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 VCP Sarah Leigh reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 U2AF2 Sarah Leigh reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 TTI1 Sarah Leigh commented on gene: TTI1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 TSPOAP1 Sarah Leigh edited their review of gene: TSPOAP1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 TMEM63B Sarah Leigh reviewed gene: TMEM63B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 TEFM Sarah Leigh reviewed gene: TEFM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 SRSF1 Sarah Leigh reviewed gene: SRSF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 SLC30A9 Sarah Leigh edited their review of gene: SLC30A9: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v6.11 SHQ1 Sarah Leigh edited their review of gene: SHQ1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 RPS6KA3 Sarah Leigh reviewed gene: RPS6KA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v6.11 RPL10 Sarah Leigh commented on gene: RPL10: The mode of inheritance of this gene has been updated to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 RELN Sarah Leigh reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v6.11 RBL2 Sarah Leigh commented on gene: RBL2: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 RAP1B Sarah Leigh reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 RAB5C Sarah Leigh reviewed gene: RAB5C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 PSMC3 Sarah Leigh reviewed gene: PSMC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 PPP1R3F Sarah Leigh reviewed gene: PPP1R3F: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v6.11 PIP5K1C Sarah Leigh reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 PABPC1 Sarah Leigh edited their review of gene: PABPC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v6.11 NR2F2 Sarah Leigh reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 NEUROG1 Sarah Leigh reviewed gene: NEUROG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 MYH10 Sarah Leigh reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 MAST4 Sarah Leigh edited their review of gene: MAST4: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 LETM1 Sarah Leigh commented on gene: LETM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 KMT2B Sarah Leigh reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v6.11 KCNH5 Sarah Leigh reviewed gene: KCNH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 FAR1 Sarah Leigh commented on gene: FAR1: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 FAM111A Sarah Leigh commented on gene: FAM111A: The rating of this gene has been updated to red following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 ESAM Sarah Leigh reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 ERI1 Sarah Leigh reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 EIF4A2 Sarah Leigh commented on gene: EIF4A2: The rating of this gene has been updated to Green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval
Intellectual disability v6.11 DPP6 Sarah Leigh reviewed gene: DPP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Intellectual disability v6.11 DHX9 Sarah Leigh reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 DAGLA Sarah Leigh reviewed gene: DAGLA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 COX11 Sarah Leigh edited their review of gene: COX11: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 CNOT9 Sarah Leigh reviewed gene: CNOT9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 CLDN11 Sarah Leigh reviewed gene: CLDN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 CLCN6 Sarah Leigh commented on gene: CLCN6: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 CDK16 Sarah Leigh commented on gene: CDK16: The rating of this gene has been updated to green and the mode of inheritance updated to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.
Intellectual disability v6.11 CASP2 Sarah Leigh edited their review of gene: CASP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Intellectual disability v6.11 ATP6V0C Sarah Leigh reviewed gene: ATP6V0C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v6.11 ARF3 Sarah Leigh reviewed gene: ARF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v6.11 AGTPBP1 Sarah Leigh reviewed gene: AGTPBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.11 ACACA Sarah Leigh edited their review of gene: ACACA: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v6.10 ZBTB47 Achchuthan Shanmugasundram Source Expert Review Green was added to ZBTB47.
Source NHS GMS was added to ZBTB47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 VCP Achchuthan Shanmugasundram Source Expert Review Green was added to VCP.
Source NHS GMS was added to VCP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 U2AF2 Achchuthan Shanmugasundram Source Expert Review Green was added to U2AF2.
Source NHS GMS was added to U2AF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 TTI1 Achchuthan Shanmugasundram Source Expert Review Green was added to TTI1.
Source NHS GMS was added to TTI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 TSPOAP1 Achchuthan Shanmugasundram Source Expert Review Green was added to TSPOAP1.
Source NHS GMS was added to TSPOAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 TMEM63B Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM63B.
Source NHS GMS was added to TMEM63B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 TEFM Achchuthan Shanmugasundram Source Expert Review Green was added to TEFM.
Source NHS GMS was added to TEFM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 SRSF1 Achchuthan Shanmugasundram Source Expert Review Green was added to SRSF1.
Source NHS GMS was added to SRSF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 SLC30A9 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC30A9.
Source NHS GMS was added to SLC30A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 SHQ1 Achchuthan Shanmugasundram Source Expert Review Green was added to SHQ1.
Source NHS GMS was added to SHQ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 RPS6KA3 Achchuthan Shanmugasundram Source NHS GMS was added to RPS6KA3.
Mode of inheritance for gene RPS6KA3 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)
Intellectual disability v6.10 RPL10 Achchuthan Shanmugasundram Source NHS GMS was added to RPL10.
Mode of inheritance for gene RPL10 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability v6.10 RELN Achchuthan Shanmugasundram Source NHS GMS was added to RELN.
Mode of inheritance for gene RELN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability v6.10 RBL2 Achchuthan Shanmugasundram Source Expert Review Green was added to RBL2.
Source NHS GMS was added to RBL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 RAP1B Achchuthan Shanmugasundram Source Expert Review Green was added to RAP1B.
Source NHS GMS was added to RAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 RAB5C Achchuthan Shanmugasundram Source Expert Review Green was added to RAB5C.
Source NHS GMS was added to RAB5C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 PSMC3 Achchuthan Shanmugasundram Source Expert Review Green was added to PSMC3.
Source NHS GMS was added to PSMC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 PPP1R3F Achchuthan Shanmugasundram Source Expert Review Green was added to PPP1R3F.
Source NHS GMS was added to PPP1R3F.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 PIP5K1C Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C.
Source NHS GMS was added to PIP5K1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 PABPC1 Achchuthan Shanmugasundram Source Expert Review Green was added to PABPC1.
Source NHS GMS was added to PABPC1.
Mode of inheritance for gene PABPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 NR2F2 Achchuthan Shanmugasundram Source Expert Review Green was added to NR2F2.
Source NHS GMS was added to NR2F2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 NEUROG1 Achchuthan Shanmugasundram Source Expert Review Green was added to NEUROG1.
Source NHS GMS was added to NEUROG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 MYH10 Achchuthan Shanmugasundram Source Expert Review Green was added to MYH10.
Source NHS GMS was added to MYH10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 MAST4 Achchuthan Shanmugasundram Source Expert Review Green was added to MAST4.
Source NHS GMS was added to MAST4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 LETM1 Achchuthan Shanmugasundram Source Expert Review Green was added to LETM1.
Source NHS GMS was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 KMT2B Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B.
Source NHS GMS was added to KMT2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 KCNH5 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNH5.
Source NHS GMS was added to KCNH5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 FAR1 Achchuthan Shanmugasundram Source NHS GMS was added to FAR1.
Mode of inheritance for gene FAR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability v6.10 FAM111A Achchuthan Shanmugasundram Source Expert Review Red was added to FAM111A.
Source NHS GMS was added to FAM111A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v6.10 ESAM Achchuthan Shanmugasundram Source Expert Review Green was added to ESAM.
Source NHS GMS was added to ESAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 ERI1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERI1.
Source NHS GMS was added to ERI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 EIF4A2 Achchuthan Shanmugasundram Source Expert Review Green was added to EIF4A2.
Source NHS GMS was added to EIF4A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 DPP6 Achchuthan Shanmugasundram Source Expert Review Red was added to DPP6.
Source NHS GMS was added to DPP6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Intellectual disability v6.10 DHX9 Achchuthan Shanmugasundram Source Expert Review Green was added to DHX9.
Source NHS GMS was added to DHX9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 DAGLA Achchuthan Shanmugasundram Source Expert Review Green was added to DAGLA.
Source NHS GMS was added to DAGLA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 COX11 Achchuthan Shanmugasundram Source Expert Review Green was added to COX11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 CNOT9 Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT9.
Source NHS GMS was added to CNOT9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 CLDN11 Achchuthan Shanmugasundram Source Expert Review Green was added to CLDN11.
Source NHS GMS was added to CLDN11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 CLCN6 Achchuthan Shanmugasundram Source Expert Review Green was added to CLCN6.
Source NHS GMS was added to CLCN6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 CDK16 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK16.
Source NHS GMS was added to CDK16.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 CASP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CASP2.
Source NHS GMS was added to CASP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 ATP6V0C Achchuthan Shanmugasundram Source Expert Review Green was added to ATP6V0C.
Source NHS GMS was added to ATP6V0C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 ARF3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARF3.
Source NHS GMS was added to ARF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 AGTPBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to AGTPBP1.
Source NHS GMS was added to AGTPBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v6.10 ACACA Achchuthan Shanmugasundram Source Expert Review Green was added to ACACA.
Source NHS GMS was added to ACACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v2.11 GREM1 Achchuthan Shanmugasundram reviewed gene: GREM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Inherited polyposis and early onset colorectal cancer - germline testing v2.11 GREM1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: GREM1.
Tag Q4_23_NHS_review was removed from gene: GREM1.
Inherited polyposis and early onset colorectal cancer - germline testing v2.11 GREM1 Achchuthan Shanmugasundram Source Expert Review Green was added to GREM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.3 SLC22A5 Achchuthan Shanmugasundram Tag Q4_23_MOI was removed from gene: SLC22A5.
Paediatric or syndromic cardiomyopathy v4.3 TAB2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: TAB2.
Paediatric or syndromic cardiomyopathy v4.3 LETM1 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LETM1.
Tag Q3_23_MOI was removed from gene: LETM1.
Paediatric or syndromic cardiomyopathy v4.3 LDB3 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: LDB3.
Paediatric or syndromic cardiomyopathy v4.3 ELAC2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: ELAC2.
Tag Q3_23_NHS_review was removed from gene: ELAC2.
Paediatric or syndromic cardiomyopathy v4.3 CAP2 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: CAP2.
Paediatric or syndromic cardiomyopathy v4.3 TAB2 Sarah Leigh edited their review of gene: TAB2: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paediatric or syndromic cardiomyopathy v4.3 SLC22A5 Sarah Leigh commented on gene: SLC22A5: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v4.3 LETM1 Sarah Leigh commented on gene: LETM1: The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Paediatric or syndromic cardiomyopathy v4.3 LDB3 Sarah Leigh reviewed gene: LDB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.3 ELAC2 Sarah Leigh reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.3 CAP2 Sarah Leigh reviewed gene: CAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.2 TAB2 Achchuthan Shanmugasundram Source Expert Review Green was added to TAB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 SLC22A5 Achchuthan Shanmugasundram Mode of inheritance for gene SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy v4.2 LETM1 Achchuthan Shanmugasundram Source NHS GMS was added to LETM1.
Source Expert Review Green was added to LETM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 LDB3 Achchuthan Shanmugasundram Source Expert Review Green was added to LDB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 ELAC2 Achchuthan Shanmugasundram Source NHS GMS was added to ELAC2.
Source Expert Review Green was added to ELAC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Paediatric or syndromic cardiomyopathy v4.2 CAP2 Achchuthan Shanmugasundram Source NHS GMS was added to CAP2.
Source Expert Review Green was added to CAP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v5.3 NEK8 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NEK8.
Cystic kidney disease v5.3 SEC63 Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SEC63.
Tag Q3_23_NHS_review was removed from gene: SEC63.
Cystic kidney disease v5.3 PRKCSH Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: PRKCSH.
Tag Q3_23_NHS_review was removed from gene: PRKCSH.
Cystic kidney disease v5.3 SEC63 Arina Puzriakova reviewed gene: SEC63: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v5.3 PRKCSH Arina Puzriakova reviewed gene: PRKCSH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v5.3 NEK8 Arina Puzriakova reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cystic kidney disease v5.2 SEC63 Achchuthan Shanmugasundram Source Expert Review Green was added to SEC63.
Source NHS GMS was added to SEC63.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v5.2 PRKCSH Achchuthan Shanmugasundram Source Expert Review Green was added to PRKCSH.
Source NHS GMS was added to PRKCSH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Cystic kidney disease v5.2 NEK8 Achchuthan Shanmugasundram Source Expert Review Green was added to NEK8.
Source NHS GMS was added to NEK8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Unexplained young onset end-stage renal disease v4.3 SLC34A3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC34A3.
Unexplained young onset end-stage renal disease v4.3 MOCOS Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MOCOS.
Unexplained young onset end-stage renal disease v4.3 YRDC Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: YRDC.
Unexplained young onset end-stage renal disease v4.3 WNK4 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: WNK4.
Unexplained young onset end-stage renal disease v4.3 WDR72 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: WDR72.
Unexplained young onset end-stage renal disease v4.3 TULP3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TULP3.
Unexplained young onset end-stage renal disease v4.3 TTR Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TTR.
Unexplained young onset end-stage renal disease v4.3 TRPM6 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TRPM6.
Unexplained young onset end-stage renal disease v4.3 TPRKB Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: TPRKB.
Unexplained young onset end-stage renal disease v4.3 STRADA Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: STRADA.
Unexplained young onset end-stage renal disease v4.3 SLC5A2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC5A2.
Unexplained young onset end-stage renal disease v4.3 SLC4A4 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC4A4.
Unexplained young onset end-stage renal disease v4.3 SLC4A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC4A1.
Unexplained young onset end-stage renal disease v4.3 SLC34A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC34A1.
Unexplained young onset end-stage renal disease v4.3 SLC2A2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC2A2.
Unexplained young onset end-stage renal disease v4.3 SLC12A3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC12A3.
Unexplained young onset end-stage renal disease v4.3 SLC12A1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SLC12A1.
Unexplained young onset end-stage renal disease v4.3 SEC63 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SEC63.
Unexplained young onset end-stage renal disease v4.3 SCNN1G Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SCNN1G.
Unexplained young onset end-stage renal disease v4.3 SCNN1B Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SCNN1B.
Unexplained young onset end-stage renal disease v4.3 SCNN1A Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SCNN1A.
Unexplained young onset end-stage renal disease v4.3 SARS2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: SARS2.
Unexplained young onset end-stage renal disease v4.3 RRAGD Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RRAGD.
Unexplained young onset end-stage renal disease v4.3 RMND1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: RMND1.
Unexplained young onset end-stage renal disease v4.3 PRKCSH Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PRKCSH.
Unexplained young onset end-stage renal disease v4.3 PHEX Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PHEX.
Unexplained young onset end-stage renal disease v4.3 PDSS2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: PDSS2.
Unexplained young onset end-stage renal disease v4.3 NR3C2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: NR3C2.
Unexplained young onset end-stage renal disease v4.3 MAGED2 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: MAGED2.
Unexplained young onset end-stage renal disease v4.3 LYZ Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: LYZ.
Unexplained young onset end-stage renal disease v4.3 LCAT Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: LCAT.
Unexplained young onset end-stage renal disease v4.3 KLHL3 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KLHL3.
Unexplained young onset end-stage renal disease v4.3 KCNJ16 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KCNJ16.
Unexplained young onset end-stage renal disease v4.3 KCNJ10 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KCNJ10.
Unexplained young onset end-stage renal disease v4.3 KCNJ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: KCNJ1.
Unexplained young onset end-stage renal disease v4.3 IFT27 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: IFT27.
Unexplained young onset end-stage renal disease v4.3 IFT172 Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: IFT172.