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Growth failure in early childhood v3.94 | PAPPA2 | Melissa Connolly reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31555216, Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; Phenotypes: Short stature, dysmorphism, mild microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.94 | PAPPA2 | Melissa Connolly Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.94 | PAPPA2 | Melissa Connolly reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31555216, Durkie et al, 2024 https://www.acgs.uk.com/media/12533/uk-practice-guidelines-for-variant-classification-v12-2024.pdf; Phenotypes: Short stature, frontal bossing, prognathism, juvenile cataracts; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.94 | PCNT | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.93 | RNU4ATAC | Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from MOPD I to Lowry-Wood syndrome, OMIM:226960; Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.92 | XRCC4 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.91 | ATRIP | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.90 | CDC6 | Arina Puzriakova 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.89 | GLI3 | Arina Puzriakova Phenotypes for gene: GLI3 were changed from Pallister-Hall syndrome to Pallister-Hall syndrome, OMIM:146510 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.87 | ISCA-37406-Loss | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes;610543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.87 | ISCA-37406-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37406-Loss were changed from PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543 to Chromosome 16p13.3 deletion syndrome, OMIM:610543 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.86 | ISCA-37397-Loss | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: uterine didelphys;language delay;Hyptonia;prematurity;clinodactyly;ADHD;Goldenhar syndrome;developmental delay;611867;diaphragmatic hernia;DiGeorge syndrome (DGS);velocardiofacial syndrome;mild skeletal abnormalities;Seizures;global developmental delay;prenatal and postnatal growth delay;micropephaly;cardiovascular defects | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.86 | ISCA-37397-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37397-Loss were changed from uterine didelphys; language delay; Hyptonia; prematurity; clinodactyly; ADHD; Goldenhar syndrome; developmental delay; 611867; diaphragmatic hernia; DiGeorge syndrome (DGS); velocardiofacial syndrome; mild skeletal abnormalities; Seizures; global developmental delay; prenatal and postnatal growth delay; micropephaly; cardiovascular defects to Chromosome 22q11.2 deletion syndrome, distal, OMIM:611867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.85 | ISCA-37392-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37392-Loss was changed from to None. Phenotypes for Region: ISCA-37392-Loss were changed from 194050; Williams syndrome to Williams-Beuren syndrome, OMIM:194050 |
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Growth failure in early childhood v3.82 | RBBP8 | Arina Puzriakova Publications for gene: RBBP8 were updated from 24389050, 21998596 to 24389050; 21998596 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.81 | LIG4 | Arina Puzriakova Publications for gene: LIG4 were updated from 11779494, 16088910, to 11779494; 16088910 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.80 | LIG1 | Arina Puzriakova Publications for gene: LIG1 were updated from 1581963, 1351188 to 1581963; 1351188 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.79 | H19 | Arina Puzriakova Mode of inheritance for gene: H19 was changed from Other - please specifiy in evaluation comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.76 | RAPSN | Arina Puzriakova Phenotypes for gene: RAPSN were changed from Fetal Akinesia Deformation Sequence; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150 to Fetal akinesia deformation sequence 2, OMIM:618388; Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, OMIM:616326 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.75 | ORC6 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.75 | ORC6 | Arina Puzriakova Phenotypes for gene: ORC6 were changed from Meier-Gorlin syndrome 3, 613803; Meier-Gorlin; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to Meier-Gorlin syndrome 3, OMIM:613803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.74 | ORC4 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.74 | ORC4 | Arina Puzriakova Phenotypes for gene: ORC4 were changed from Meier-Gorlin; Meier-Gorlin syndrome 2, 613800; micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to Meier-Gorlin syndrome 2, OMIM:613800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.73 | ORC1 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.73 | ORC1 | Arina Puzriakova Phenotypes for gene: ORC1 were changed from microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia; Meier-Gorlin; Meier-Gorlin syndrome 1, 224690 to Meier-Gorlin syndrome 1, OMIM:224690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.72 | FANCM | Arina Puzriakova Phenotypes for gene: FANCM were changed from Fanconi anemia, complementation group M, 614087; Fanconi Anemia; Fanconi anemia to Fanconi anemia, complementation group M, 614087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.71 | CDT1 | Arina Puzriakova Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin syndrome 4, 613804; Meier-Gorlin to Meier-Gorlin syndrome 4, OMIM:613804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.70 | PLK4 | Arina Puzriakova Phenotypes for gene: PLK4 were changed from Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516 to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.69 | INTS1 | Arina Puzriakova Phenotypes for gene: INTS1 were changed from Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.68 | HMGA2 | Arina Puzriakova Phenotypes for gene: HMGA2 were changed from Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795 to Silver-Russell syndrome 5, OMIM:618908 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.67 | COG4 | Arina Puzriakova Phenotypes for gene: COG4 were changed from Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 to Saul-Wilson syndrome, OMIM:618150 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.66 | ANAPC1 | Arina Puzriakova Phenotypes for gene: ANAPC1 were changed from Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 to Rothmund Thomson syndrome type 1, OMIM:618625 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.65 | ZNF668 | Arina Puzriakova Phenotypes for gene: ZNF668 were changed from DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism to Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies, OMIM:620194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.64 | VPS50 | Arina Puzriakova Phenotypes for gene: VPS50 were changed from Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum to Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis, OMIM:619685 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.63 | SETD5 | Arina Puzriakova Phenotypes for gene: SETD5 were changed from Mental retardation, autosomal dominant 23, OMIM:615761; growth retardation; bone fragility to Intellectual developmental disorder, autosomal dominant 23, OMIM:615761 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.62 | ZFP57 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes include: IUGR;Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.62 | ZFP57 | Arina Puzriakova Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance to Diabetes mellitus, transient neonatal 1, OMIM:601410 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.61 | UBE2T | Arina Puzriakova Phenotypes for gene: UBE2T were changed from Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435 to Fanconi anemia, complementation group T, OMIM:616435 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.60 | TRIM37 | Arina Puzriakova Phenotypes for gene: TRIM37 were changed from Mulibery Nanism, 253250; Mulibrey nanism to Mulibrey nanism, OMIM:253250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.59 | TOP3A | Arina Puzriakova Phenotypes for gene: TOP3A were changed from MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2; 618097 MGRISCE2 (Bloom-like syndrome) to Microcephaly, growth restriction, and increased sister chromatid exchange 2, OMIM:618097 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.58 | SRCAP | Arina Puzriakova Phenotypes for gene: SRCAP were changed from Floating Harbor; Floating-Harbor syndrome, 136140 to Floating-Harbor syndrome, OMIM:136140 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.57 | SPRED2 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): developmental delay;intellectual disability;cardiac defects;short stature;skeletal anomalies;a typical facial gestalt | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.57 | SPRED2 | Arina Puzriakova Phenotypes for gene: SPRED2 were changed from developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt to Noonan syndrome 14, OMIM:619745 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.56 | SOS2 | Arina Puzriakova Phenotypes for gene: SOS2 were changed from Noonan syndrome 9 to Noonan syndrome 9, OMIM:616559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.55 | SOS1 | Arina Puzriakova Phenotypes for gene: SOS1 were changed from Rasopathy; Noonan syndrome; Noonan syndrome 4 to Noonan syndrome 4, OMIM:610733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.54 | SLX4 | Arina Puzriakova Phenotypes for gene: SLX4 were changed from 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia to Fanconi anemia, complementation group P, OMIM:613951 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.53 | SHOX | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Dorsolateral bowed, short radii;Bowing and curving of radius;Radioulnar shortening | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.53 | SHOX | Arina Puzriakova Phenotypes for gene: SHOX were changed from Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.52 | SHOC2 | Arina Puzriakova Phenotypes for gene: SHOC2 were changed from Noonan with loss of anagen hair; Noonan-like syndrome with loose anagen hair to Noonan syndrome-like with loose anagen hair 1, OMIM:607721 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.51 | RIT1 | Arina Puzriakova Phenotypes for gene: RIT1 were changed from Rasopathy; Noonan syndrome 8; Noonan syndrome type 8 to Noonan syndrome 8, OMIM:615355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.50 | RAF1 | Arina Puzriakova Phenotypes for gene: RAF1 were changed from Rasopathy; Noonan syndrome; LEOPARD syndrome 2; Noonan syndrome 5; LEOPARD syndrome to LEOPARD syndrome 2, OMIM:611554; Noonan syndrome 5, OMIM:611553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.49 | PTPN11 | Arina Puzriakova Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome 1; Noonan syndrome to LEOPARD syndrome 1, OMIM:151100; Noonan syndrome 1, OMIM:163950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.48 | PPP1CB | Arina Puzriakova Phenotypes for gene: PPP1CB were changed from Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair to Noonan syndrome-like disorder with loose anagen hair 2, OMIM:617506 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.47 | PLAG1 | Arina Puzriakova Phenotypes for gene: PLAG1 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 4, OMIM:618907 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.46 | PIK3R1 | Arina Puzriakova Phenotypes for gene: PIK3R1 were changed from SHORT syndrome, 269880; SHORT to SHORT syndrome, OMIM:269880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.45 | PALB2 | Arina Puzriakova Phenotypes for gene: PALB2 were changed from Fanconi anemia, complementation group N, 610832; 610832 Fanconi anemia, complementation group N to Fanconi anemia, complementation group N, OMIM:610832 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.44 | OBSL1 | Arina Puzriakova Phenotypes for gene: OBSL1 were changed from 3M; 3-M syndrome 2, 612921 to 3-M syndrome 2, OMIM:612921 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.43 | NRAS | Arina Puzriakova Phenotypes for gene: NRAS were changed from Noonan syndrome; CFC Syndrome; A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.); Noonan syndrome 6; Cardio-Facio-cutanenous syndrome to Noonan syndrome 6, OMIM:613224 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.42 | NHLRC2 | Arina Puzriakova Phenotypes for gene: NHLRC2 were changed from FINCA syndrome OMIM:618278 to FINCA syndrome, OMIM:618278 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.41 | NBN | Arina Puzriakova Phenotypes for gene: NBN were changed from Nijmegen; Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, OMIM:251260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.40 | NBAS | Arina Puzriakova Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, OMIM:614800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.39 | MTX2 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): Mandibuloacral dysplasia;lipodystrophy;arterial calcification;growth retardation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.39 | MTX2 | Arina Puzriakova Phenotypes for gene: MTX2 were changed from Mandibuloacral dysplasia; lipodystrophy; arterial calcification; growth retardation to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.38 | MAP2K2 | Arina Puzriakova Phenotypes for gene: MAP2K2 were changed from CFC syndrome; Cardiofaciocutaneous syndrome 4; Cardiofaciocutaneous syndrome; Cardio-Facio-Cutaneous syndrome type 4; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome to Cardiofaciocutaneous syndrome 4, OMIM:615280 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.37 | MAP2K1 | Arina Puzriakova Phenotypes for gene: MAP2K1 were changed from LEOPARD syndrome; CFC syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome to Cardiofaciocutaneous syndrome 3, OMIM:615279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.36 | LZTR1 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): Noonan syndrome 10;increased nuchal translucency;Prenatal hydrops;cardiac findings | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.36 | LZTR1 | Arina Puzriakova Phenotypes for gene: LZTR1 were changed from Noonan syndrome 10; increased nuchal translucency; Prenatal hydrops; cardiac findings to Noonan syndrome 10, OMIM:616564 (AD); Noonan syndrome 2, OMIM:605275 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.35 | KRAS | Arina Puzriakova Phenotypes for gene: KRAS were changed from Rasopathy; Noonan syndrome; CFC syndrome; Cardiofaciocutaneous syndrome 2; Noonan syndrome 3; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome to Cardiofaciocutaneous syndrome 2, OMIM:615278; Noonan syndrome 3, OMIM:609942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.34 | IGFALS | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes: Short stature;Delayed puberty;Very low IGF-I levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.34 | IGFALS | Arina Puzriakova Phenotypes for gene: IGFALS were changed from Acid-labile subunit, deficiency of, OMIM:615961; Short stature; Delayed puberty; Very low IGF-I levels to Acid-labile subunit, deficiency of, OMIM:615961 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.33 | IGF2 | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): SRS;IUGR;Pre- and post-natal growth failure;?Growth restriction, severe, with distinctive facies, 616489;Silver-Russell phenptype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.33 | IGF2 | Arina Puzriakova Phenotypes for gene: IGF2 were changed from SRS; IUGR; Pre- and post-natal growth failure; ?Growth restriction, severe, with distinctive facies, 616489; Silver-Russell phenptype to Silver-Russell syndrome 3, OMIM:616489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.32 | IGF1 | Arina Puzriakova Phenotypes for gene: IGF1 were changed from Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747; IGF1 to Insulin-like growth factor I deficiency, OMIM:608747 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.31 | HRAS | Arina Puzriakova Phenotypes for gene: HRAS were changed from Costello syndrome, 218040; Costello; Costello syndrome to Costello syndrome, OMIM:218040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.30 | FGFR3 | Arina Puzriakova Phenotypes for gene: FGFR3 were changed from Hypochondroplasia, 146000 to Hypochondroplasia, OMIM:146000; Crouzon syndrome with acanthosis nigricans, OMIM:612247; Thanatophoric dysplasia, type I, OMIM:187600; Thanatophoric dysplasia, type II, OMIM:187601 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.29 | FANCL | Arina Puzriakova Phenotypes for gene: FANCL were changed from Fanconi anemia; Fanconi anemia, complementation group L, 614083; 614083Fanconi anemia, complementation group L; Fanconi Anemia to Fanconi anemia, complementation group L, OMIM:614083 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.28 | FANCI | Arina Puzriakova Phenotypes for gene: FANCI were changed from Fanconi anemia; Fanconi anemia, complementation group I, 609053; 609053 Fanconi anemia, complementation group I; Fanconi Anemia to Fanconi anemia, complementation group I, OMIM:609053 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.27 | FANCG | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): 614082 Fanconi anemia, complementation group G;pre- and postnatal growth retardation;a typical facial appearance with small head, eyes, and mouth;hypogonadism and reduced fertility;Fanconi anemia, complementation group G, 614082;Fanconi anemia complementation group G;malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii);cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots);hearing loss;and susceptibility to cancer, predominantly acute myeloid leukemia.;Fanconi Anemia;Fanconi anemia;bone marrow failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.27 | FANCG | Arina Puzriakova Phenotypes for gene: FANCG were changed from 614082 Fanconi anemia, complementation group G; pre- and postnatal growth retardation; a typical facial appearance with small head, eyes, and mouth; hypogonadism and reduced fertility; Fanconi anemia, complementation group G, 614082; Fanconi anemia complementation group G; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; Fanconi anemia; bone marrow failure to Fanconi anemia, complementation group G, OMIM:614082 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.26 | FANCF | Arina Puzriakova Phenotypes for gene: FANCF were changed from Fanconi anemia; Fanconi anemia, complementation group F, 603467; 603467 Fanconi anemia, complementation group F; Fanconi Anemia to Fanconi anemia, complementation group F, OMIM:603467 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.25 | FANCE | Arina Puzriakova Phenotypes for gene: FANCE were changed from Fanconi anemia, complementation group E, 600901; Fanconi anemia; 600901 Fanconi anemia, complementation group E; Fanconi Anemia to Fanconi anemia, complementation group E, OMIM:600901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.24 | FANCD2 | Arina Puzriakova Phenotypes for gene: FANCD2 were changed from Fanconi anemia; Fanconi anemia, complementation group D2, 227646; 227646 Fanconi anemia, complementation group D2; Fanconi Anemia to Fanconi anemia, complementation group D2, OMIM:227646 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.23 | FANCC | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): pre- and postnatal growth retardation;a typical facial appearance with small head, eyes, and mouth;hypogonadism and reduced fertility;malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii);cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots);hearing loss;and susceptibility to cancer, predominantly acute myeloid leukemia.;Fanconi Anemia;Fanconi anemia, complementation group C, 227645;Fanconi anemia;bone marrow failure;227645 Fanconi anemia, complementation group C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.23 | FANCC | Arina Puzriakova Phenotypes for gene: FANCC were changed from pre- and postnatal growth retardation; a typical facial appearance with small head, eyes, and mouth; hypogonadism and reduced fertility; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; Fanconi anemia, complementation group C, 227645; Fanconi anemia; bone marrow failure; 227645 Fanconi anemia, complementation group C to Fanconi anemia, complementation group C, OMIM:227645 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.22 | FANCB | Arina Puzriakova Phenotypes for gene: FANCB were changed from Fanconi Anemia Type B; VACTERL Association with Hydrocephalus; 300514 Fanconi anemia, complementation group B; Fanconi Anemia, X-Linked; Fanconi Anaemia; Fanconi anemia; Falcon anemia; Fanconi anemia, complementation group B, 300514 to Fanconi anemia, complementation group B, OMIM:300514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.21 | FANCA | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): pre- and postnatal growth retardation;a typical facial appearance with small head, eyes, and mouth;hypogonadism and reduced fertility;malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii);Fanconi anemia, complementation group A, 227650;cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots);hearing loss;and susceptibility to cancer, predominantly acute myeloid leukemia.;Fanconi Anemia;227650 Fanconi anemia complementation group A;Fanconi anemia;bone marrow failure | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.21 | FANCA | Arina Puzriakova Phenotypes for gene: FANCA were changed from pre- and postnatal growth retardation; a typical facial appearance with small head, eyes, and mouth; hypogonadism and reduced fertility; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); Fanconi anemia, complementation group A, 227650; cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); hearing loss; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; 227650 Fanconi anemia complementation group A; Fanconi anemia; bone marrow failure to Fanconi anemia, complementation group A, OMIM:227650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.20 | ERCC4 | Arina Puzriakova Phenotypes for gene: ERCC4 were changed from Fanconi anemia, complementation group Q, 615272; 615272 Fanconi anemia, complementation group Q to Fanconi anemia, complementation group Q, OMIM:615272 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.19 | CUL7 | Arina Puzriakova Phenotypes for gene: CUL7 were changed from 3-M syndrome 1, 273750; 3M to 3-M syndrome 1, OMIM:273750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.18 | CEP57 | Arina Puzriakova Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2, 614114 to Mosaic variegated aneuploidy syndrome 2, OMIM:614114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.17 | CDKN1C | Arina Puzriakova Added comment: Comment on phenotypes: Previous phenotypes (overwritten): SRS/BWS;Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies;Beckwith-Wiedemann syndrome, 130650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.17 | CDKN1C | Arina Puzriakova Phenotypes for gene: CDKN1C were changed from SRS/BWS; Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies; Beckwith-Wiedemann syndrome, 130650 to IMAGE syndrome, OMIM:614732 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.16 | CCDC8 | Arina Puzriakova Phenotypes for gene: CCDC8 were changed from 3-M syndrome 3, 614205; 3M to 3-M syndrome 3, OMIM:614205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.15 | CBL | Arina Puzriakova Phenotypes for gene: CBL were changed from Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, OMIM:613563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.14 | BRAF | Arina Puzriakova Phenotypes for gene: BRAF were changed from LEOPARD syndrome 3; LEOPARD Syndrome; Cardiofaciocutaneous syndrome; Cardiofaciocutaneous Syndrome; Cardio-facio-cutaneous syndrome; Noonan Syndrome to Cardiofaciocutaneous syndrome, OMIM:115150; LEOPARD syndrome 3, OMIM:613707; Noonan syndrome 7, OMIM:613706 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.13 | ANKRD11 | Arina Puzriakova Phenotypes for gene: ANKRD11 were changed from KBG; KBG syndrome, 148050 to KBG syndrome, OMIM:148050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.12 | ACAN | Arina Puzriakova Phenotypes for gene: ACAN were changed from Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800; Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361 to Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, OMIM:165800 (AD); ?Spondyloepiphyseal dysplasia, Kimberley type, OMIM:608361 (AD); Spondyloepimetaphyseal dysplasia, aggrecan type, OMIM:612813 (AR) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.11 | RECQL4 | Arina Puzriakova Publications for gene: RECQL4 were set to PMID: 38021400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.10 | RECQL4 |
Arina Puzriakova Tag Q1_24_promote_green tag was added to gene: RECQL4. Tag Q1_24_NHS_review tag was added to gene: RECQL4. |
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Growth failure in early childhood v3.10 | RECQL4 | Arina Puzriakova Classified gene: RECQL4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.10 | RECQL4 |
Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Melissa Connolly. RECQL4 is associated with multiple phenotypes, one of which is Rothmund-Thomson syndrome which can present with short stature. Review of case reports in the literature did not clearly indicate the level of severity, although 'small size' for height and weight is often mentioned. Patients have been followed up specifically for short stature, indicating that this panel is a plausible route for referral. This, considered alongside the Green rating that has been allocated to the other Rothmund-Thomson syndrome gene (ANAPC1) as highlighted by Melissa Connolly, supports the promotion of RECQL4 to Green status at the next GMS panel update. |
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Growth failure in early childhood v3.10 | RECQL4 | Arina Puzriakova Gene: recql4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.9 | RECQL4 | Arina Puzriakova Phenotypes for gene: RECQL4 were changed from Short stature; frontal bossing; prognathism; juvenile cataracts to Rothmund-Thomson syndrome, type 2, OMIM:268400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.8 | MSTO1 | Arina Puzriakova Tag Q1_24_NHS_review tag was added to gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.8 | RECQL4 |
Melissa Connolly changed review comment from: ANAPC1 was added to the R147.1 panel for Rothmund-Thomson syndrome but RECQL4 gene, which is a more common cause of the this disorder was not. From gene reviews this gene causes 60% of RTS cases vs. ANAPC1 causing 10%. To complete the screening for RTS in short stature patients, this gene should be added to the panel Sources: Literature; to: ANAPC1 was added to the R147.1 panel for Rothmund-Thomson syndrome but RECQL4, which is a more common cause of the this disorder was not. From gene reviews this gene causes 60% of RTS cases vs. ANAPC1 causing 10%. To complete the screening for RTS in short stature patients, this gene should be added to the panel Sources: Literature |
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Growth failure in early childhood v3.8 | RECQL4 |
Melissa Connolly gene: RECQL4 was added gene: RECQL4 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RECQL4 were set to PMID: 38021400 Phenotypes for gene: RECQL4 were set to Short stature; frontal bossing; prognathism; juvenile cataracts Penetrance for gene: RECQL4 were set to Complete Review for gene: RECQL4 was set to GREEN Added comment: ANAPC1 was added to the R147.1 panel for Rothmund-Thomson syndrome but RECQL4 gene, which is a more common cause of the this disorder was not. From gene reviews this gene causes 60% of RTS cases vs. ANAPC1 causing 10%. To complete the screening for RTS in short stature patients, this gene should be added to the panel Sources: Literature |
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Growth failure in early childhood v3.8 | MSTO1 | Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.8 | MSTO1 | Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.7 | MSTO1 | Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.7 | MSTO1 | Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.6 | MSTO1 | Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.6 | MSTO1 | Suzanne Page changed review comment from: The associated claims regarding the presence of MSTO1 mutation c.22 G > A (p.Val8Met) in the investigated patients and the direct link between this mutation and patients' myopathy and ataxia phenotypes are retracted.; to: The mode of inheritance for this disorder should be changed to Biallelic. The only reported case of autosomal dominant inheritance (PMID 37431817) has been redacted. "The associated claims regarding the presence of MSTO1 mutation c.22 G > A (p.Val8Met) in the investigated patients and the direct link between this mutation and patients' myopathy and ataxia phenotypes are retracted." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.6 | MSTO1 | Suzanne Page reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 37431817; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.3 | PAPPA2 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.3 | PAPPA2 | Achchuthan Shanmugasundram commented on gene: PAPPA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.3 | BLM | Arina Puzriakova Phenotypes for gene: BLM were changed from 210900 Bloom syndrome; Bloom syndrome, 210900; Bloom to Bloom syndrome, OMIM:210900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.1 | Sarah Leigh Panel version 3.0 has been signed off on 2023-03-22 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v3.0 | Sarah Leigh promoted panel to version 3.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.35 | RNPC3 | Eleanor Williams Tag gene-checked tag was added to gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.35 | GINS3 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GINS3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.35 | FOXP4 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: FOXP4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.35 | ISCA-37429-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37429-Loss were changed from 194190; Wolf-Hirschhorn syndrome to Wolf-Hirschhorn syndrome, OMIM:194190 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.34 | ISCA-37420-Loss | Arina Puzriakova Phenotypes for Region: ISCA-37420-Loss were changed from PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; Koolen-De Vries syndrome 610443; 610443; PMID: 25217958 to Koolen-De Vries syndrome, OMIM:610443; Developmental delay/intellectual disability, hypotonia, distinctive facial features, congenital malformations, and behavioural feature | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | ISCA-37420-Loss |
Arina Puzriakova commented on Region: ISCA-37420-Loss: Previously in phenotypes field: PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; 610443; PMID: 25217958; Koolen-De Vries syndrome 610443 |
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Growth failure in early childhood v2.33 | NF1 |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: NF1. Tag Q1_23_expert_review was removed from gene: NF1. |
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Growth failure in early childhood v2.33 | KDM6A |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: KDM6A. Tag Q1_23_expert_review was removed from gene: KDM6A. |
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Growth failure in early childhood v2.33 | SETD5 |
Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: SETD5. Tag Q4_21_rating was removed from gene: SETD5. Tag Q4_21_phenotype was removed from gene: SETD5. |
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Growth failure in early childhood v2.33 | RAD51 | Achchuthan Shanmugasundram Tag Q4_21_rating was removed from gene: RAD51. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | NLRP2 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: NLRP2. Tag Q3_22_expert_review was removed from gene: NLRP2. |
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Growth failure in early childhood v2.33 | MRAS |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: MRAS. Tag Q3_22_expert_review was removed from gene: MRAS. |
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Growth failure in early childhood v2.33 | MAPK1 |
Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: MAPK1. Tag Q4_21_rating was removed from gene: MAPK1. Tag Q4_21_phenotype was removed from gene: MAPK1. |
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Growth failure in early childhood v2.33 | FOXP4 |
Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: FOXP4. Tag Q2_21_phenotype was removed from gene: FOXP4. Tag Q2_21_expert_review was removed from gene: FOXP4. |
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Growth failure in early childhood v2.33 | BTK |
Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: BTK. Tag Q4_21_rating was removed from gene: BTK. Tag Q4_21_phenotype was removed from gene: BTK. |
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Growth failure in early childhood v2.33 | PAPPA2 |
Achchuthan Shanmugasundram Tag Q3_22_rating was removed from gene: PAPPA2. Tag Q3_22_expert_review was removed from gene: PAPPA2. |
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Growth failure in early childhood v2.33 | KMT2D |
Achchuthan Shanmugasundram Tag Q4_21_expert_review was removed from gene: KMT2D. Tag Q4_21_rating was removed from gene: KMT2D. Tag Q4_21_phenotype was removed from gene: KMT2D. |
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Growth failure in early childhood v2.33 | NPR2 | Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: NPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | SHOX | Achchuthan Shanmugasundram Tag Q1_23_expert_review was removed from gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | STAT5B |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: STAT5B. Tag Q1_23_expert_review was removed from gene: STAT5B. |
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Growth failure in early childhood v2.33 | IGFALS | Achchuthan Shanmugasundram Tag Q1_23_expert_review was removed from gene: IGFALS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | GHR |
Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: GHR. Tag Q1_23_expert_review was removed from gene: GHR. |
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Growth failure in early childhood v2.33 | SPRED2 | Catherine Snow Tag Q1_22_rating was removed from gene: SPRED2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | RRAS2 | Catherine Snow Tag Q3_21_rating was removed from gene: RRAS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | RNPC3 | Catherine Snow Tag Q4_21_rating was removed from gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | MSTO1 | Catherine Snow Tag Q1_22_MOI was removed from gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | NF1 | Catherine Snow commented on gene: NF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | KDM6A | Catherine Snow commented on gene: KDM6A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | SETD5 | Catherine Snow commented on gene: SETD5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | RAD51 | Catherine Snow commented on gene: RAD51 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | PAPPA2 | Catherine Snow commented on gene: PAPPA2: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains RED. The additional comments from GLH's is "No model to prove genotype to phenotype association. Individuals in Dauber et al 2016 (PMID:26902202) would not meet eligibility criteria for R147 (height). Siblings in Babiker et al 2021 (PMID: 34272725) meet height criteria but both have moderate microcephaly. Remain as amber until further information is available to support inclusion in this panel." | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | NLRP2 | Catherine Snow commented on gene: NLRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | MRAS | Catherine Snow commented on gene: MRAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | MAPK1 | Catherine Snow commented on gene: MAPK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | KMT2D | Catherine Snow commented on gene: KMT2D: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | FOXP4 | Catherine Snow commented on gene: FOXP4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | BTK | Catherine Snow commented on gene: BTK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | PAPPA2 | Catherine Snow commented on gene: PAPPA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | KMT2D | Catherine Snow commented on gene: KMT2D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | RASA2 | Catherine Snow commented on gene: RASA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | NPR2 | Catherine Snow commented on gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | A2ML1 | Catherine Snow commented on gene: A2ML1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | STAT5B | Catherine Snow commented on gene: STAT5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | SHOX | Catherine Snow commented on gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | IGFALS | Catherine Snow commented on gene: IGFALS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | GHR | Catherine Snow commented on gene: GHR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | SPRED2 | Catherine Snow commented on gene: SPRED2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | RRAS2 | Catherine Snow commented on gene: RRAS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | RNPC3 | Catherine Snow commented on gene: RNPC3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.33 | MSTO1 | Catherine Snow commented on gene: MSTO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.32 | STAT5B |
Catherine Snow Source Expert Review Green was added to STAT5B. Source NHS GMS was added to STAT5B. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | SPRED2 |
Catherine Snow Source Expert Review Green was added to SPRED2. Source NHS GMS was added to SPRED2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | SHOX |
Catherine Snow Source Expert Review Green was added to SHOX. Source NHS GMS was added to SHOX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | RRAS2 |
Catherine Snow Source Expert Review Green was added to RRAS2. Source NHS GMS was added to RRAS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | RNPC3 |
Catherine Snow Source Expert Review Green was added to RNPC3. Source NHS GMS was added to RNPC3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | RASA2 | Catherine Snow Source NHS GMS was added to RASA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.32 | PAPPA2 | Catherine Snow Source NHS GMS was added to PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.32 | NPR2 |
Catherine Snow Source Expert Review Green was added to NPR2. Source NHS GMS was added to NPR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | MSTO1 |
Catherine Snow Source NHS GMS was added to MSTO1. Mode of inheritance for gene MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Growth failure in early childhood v2.32 | KMT2D | Catherine Snow Source NHS GMS was added to KMT2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.32 | IGFALS |
Catherine Snow Source Expert Review Green was added to IGFALS. Source NHS GMS was added to IGFALS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | GHR |
Catherine Snow Source Expert Review Green was added to GHR. Source NHS GMS was added to GHR. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v2.32 | A2ML1 | Catherine Snow Source NHS GMS was added to A2ML1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.31 | PAPPA2 | Arina Puzriakova changed review comment from: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that there is not enough evidence to support this gene-disease association and therefore should remain Red. Cases expected to be picked up via other routes (e.g. ID, skeletal dysplasia, eye panels); to: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that there is not enough evidence to support this gene-disease association and therefore should remain Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.31 | PAPPA2 | Arina Puzriakova commented on gene: PAPPA2: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that there is not enough evidence to support this gene-disease association and therefore should remain Red. Cases expected to be picked up via other routes (e.g. ID, skeletal dysplasia, eye panels) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.31 | KMT2D | Arina Puzriakova Phenotypes for gene: KMT2D were changed from Kabuki to Kabuki syndrome 1, OMIM:147920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.30 | KMT2D | Arina Puzriakova Publications for gene: KMT2D were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.29 | KMT2D | Arina Puzriakova changed review comment from: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that the phenotype is not relevant to this panel and therefore should remain Red.; to: This gene was recently reviewed by the Endocrine Specialist Group (Sept 2022) and it was decided that the phenotype is not relevant to this panel and therefore should remain Red. Cases expected to be picked up via other routes (e.g. ID, skeletal dysplasia, eye panels) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.29 | KMT2D | Arina Puzriakova commented on gene: KMT2D | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.29 | KDM6A | Arina Puzriakova Publications for gene: KDM6A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.28 | KDM6A |
Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: KDM6A. Tag Q1_23_expert_review tag was added to gene: KDM6A. |
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Growth failure in early childhood v2.28 | KDM6A | Arina Puzriakova reviewed gene: KDM6A: Rating: ; Mode of pathogenicity: None; Publications: 23913813, 29914387, 31654559, 33674768; Phenotypes: Kabuki syndrome 2, OMIM:300867; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.28 | KDM6A | Arina Puzriakova Phenotypes for gene: KDM6A were changed from Kabuki to Kabuki syndrome 2, OMIM:300867 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.27 | A2ML1 | Arina Puzriakova Classified gene: A2ML1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.27 | A2ML1 | Arina Puzriakova Added comment: Comment on list classification: Lack of evidence for this gene-disease at this time and therefore rating as Red. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.27 | A2ML1 | Arina Puzriakova Gene: a2ml1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.26 | A2ML1 | Arina Puzriakova Publications for gene: A2ML1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.25 | A2ML1 | Arina Puzriakova reviewed gene: A2ML1: Rating: ; Mode of pathogenicity: None; Publications: 24939586, 25862627; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.25 | RASA2 | Arina Puzriakova Publications for gene: RASA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.24 | A2ML1 | Arina Puzriakova Mode of inheritance for gene: A2ML1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.23 | A2ML1 | Arina Puzriakova Phenotypes for gene: A2ML1 were changed from to Noonan syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.22 | RASA2 | Arina Puzriakova Classified gene: RASA2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.22 | RASA2 | Arina Puzriakova Added comment: Comment on list classification: Three unrelated cases reported to date (PMID: 25049390) but very limited details and no segregation data. Not associated with any phenotype in OMIM or G2P, and rated LIMITED by ClinGen. Rating Amber, awaiting additional publications/clinical evidence to corroborate causality. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.22 | RASA2 | Arina Puzriakova Gene: rasa2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.21 | RASA2 | Arina Puzriakova Phenotypes for gene: RASA2 were changed from to Noonan syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.20 | RASA2 | Arina Puzriakova Mode of inheritance for gene: RASA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.19 | NF1 | Arina Puzriakova Publications for gene: NF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.18 | NF1 | Arina Puzriakova Phenotypes for gene: NF1 were changed from to Neurofibromatosis-Noonan syndrome, OMIM:601321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.17 | NF1 |
Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: NF1. Tag Q1_23_expert_review tag was added to gene: NF1. |
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Growth failure in early childhood v2.17 | NF1 | Arina Puzriakova Classified gene: NF1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.17 | NF1 | Arina Puzriakova Added comment: Comment on list classification: Short stature is a variable feature of NF1-related Noonan syndrome but >3 unrelated individuals have been reported with height at least 3 SDS below the mean. Although from the literature it was not clear whether this degree of severity can be reached within the first two years of life. Therefore, flagging for GMS expert review by the Endocrine Specialist Group to reach consensus as to whether this gene is appropriate for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.17 | NF1 | Arina Puzriakova Gene: nf1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.16 | NF1 | Arina Puzriakova Mode of inheritance for gene: NF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.15 | NPR2 | Arina Puzriakova Phenotypes for gene: NPR2 were changed from to Acromesomelic dysplasia 1, Maroteaux type, OMIM:602875 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.14 | NPR2 | Arina Puzriakova Mode of inheritance for gene: NPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: NPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Classified gene: NPR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to rate this gene as Green under a biallelic MOI - causes severe dwarfism that is usually diagnosed at birth and becomes more obvious in the first 2 years of life (MIM# 602875). Monoallelic variants can cause idiopathic short stature (MIM# 616255) however the associated height and age at which short stature becomes apparent does not meet the criteria of the panel (height ≤−3 SDS at the age of at least 2 years). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.13 | NPR2 | Arina Puzriakova Gene: npr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.12 | SHOX | Arina Puzriakova Tag Q1_23_expert_review tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.12 | SHOX | Arina Puzriakova commented on gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.12 | PAPPA2 | Arina Puzriakova reviewed gene: PAPPA2: Rating: ; Mode of pathogenicity: None; Publications: 26902202, 33875846, 34272725; Phenotypes: Short stature, Dauber-Argente type, OMIM:619489; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.12 | PAPPA2 | Arina Puzriakova Phenotypes for gene: PAPPA2 were changed from Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density to Short stature, Dauber-Argente type, OMIM:619489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.11 | IGFALS | Arina Puzriakova Publications for gene: IGFALS were set to 14762184 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova Tag Q1_23_expert_review tag was added to gene: IGFALS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova edited their review of gene: IGFALS: Changed publications to: 14762184, 16507628, 17726072, 18303074, 20591980, 21396577, 23488611, 24819402, 24423360, 27018247, 30717585, 36348166 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova reviewed gene: IGFALS: Rating: ; Mode of pathogenicity: None; Publications: 14762184, 16507628, 17726072, 18303074, 20591980, 23488611, 24819402, 27018247, 30717585, 36348166; Phenotypes: Acid-labile subunit, deficiency of, OMIM:615961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.10 | IGFALS | Arina Puzriakova Phenotypes for gene: IGFALS were changed from Short stature; delayed puberty; very low IGF-I levels to Acid-labile subunit, deficiency of, OMIM:615961; Short stature; Delayed puberty; Very low IGF-I levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova changed review comment from: There is sufficient evidence linking biallelic variants in this gene with growth hormone insensitivity resulting in severe short stature (MIM# 245590 and 618985). However, the Endocrine Specialist Group previously determined (2019) that the phenotype was not within the scope of this panel and therefore the decision was made to classify it as Red. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion.; to: There is sufficient evidence linking both monoallelic and biallelic variants in this gene with growth hormone insensitivity resulting in severe short stature (MIM# 245590 and 618985). However, the Endocrine Specialist Group previously determined (2019) that the phenotype was not within the scope of this panel and therefore the decision was made to classify it as Red. Given this gene has recently been proposed for this panel by an expert, I am recommending that the Test Evaluation Working Group review and define the panel scope, and reach consensus as to whether this gene is appropriate for inclusion. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | GHR | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: GHR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova Tag Q1_23_promote_green tag was added to gene: STAT5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova commented on gene: STAT5B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.9 | STAT5B | Arina Puzriakova Publications for gene: STAT5B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.8 | STAT5B | Arina Puzriakova Mode of inheritance for gene: STAT5B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.7 | STAT5B | Arina Puzriakova Phenotypes for gene: STAT5B were changed from to Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590; Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.6 | STAT5B | Arina Puzriakova Tag Q1_23_expert_review tag was added to gene: STAT5B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.6 | GHR | Arina Puzriakova Tag Q1_23_expert_review tag was added to gene: GHR. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.6 | GHR | Arina Puzriakova reviewed gene: GHR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Laron dwarfism, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.6 | GHR | Arina Puzriakova Phenotypes for gene: GHR were changed from Laron syndrome to Laron dwarfism, OMIM:262500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | KMT2D | Eleanor Williams reviewed gene: KMT2D: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | KDM6A | Eleanor Williams reviewed gene: KDM6A: Rating: ; 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | A2ML1 | Eleanor Williams reviewed gene: A2ML1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | RASA2 | Eleanor Williams reviewed gene: RASA2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | NF1 | Eleanor Williams reviewed gene: NF1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | NPR2 | Eleanor Williams reviewed gene: NPR2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | SHOX | Eleanor Williams commented on gene: SHOX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | PAPPA2 | Eleanor Williams reviewed gene: PAPPA2: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | IGFALS | Eleanor Williams reviewed gene: IGFALS: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | STAT5B | Eleanor Williams reviewed gene: STAT5B: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.5 | GHR | Eleanor Williams reviewed gene: GHR: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.4 | A2ML1 |
Eleanor Williams gene: A2ML1 was added gene: A2ML1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: A2ML1 was set to |
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Growth failure in early childhood v2.4 | RASA2 |
Eleanor Williams gene: RASA2 was added gene: RASA2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: RASA2 was set to |
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Growth failure in early childhood v2.4 | NF1 |
Eleanor Williams gene: NF1 was added gene: NF1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NF1 was set to |
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Growth failure in early childhood v2.4 | NPR2 |
Eleanor Williams gene: NPR2 was added gene: NPR2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NPR2 was set to |
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Growth failure in early childhood v2.3 | SHOX | Arina Puzriakova Phenotypes for gene: SHOX were changed from to Langer mesomelic dysplasia, OMIM:249700 (PR); Leri-Weill dyschondrosteosis, OMIM:127300 (PD); Short stature, idiopathic familial, OMIM:300582; Dorsolateral bowed, short radii; Bowing and curving of radius; Radioulnar shortening | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.2 | SHOX | Arina Puzriakova Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.1 | Catherine Snow Panel version 2.0 has been signed off on 2022-11-30 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v2.0 | Catherine Snow promoted panel to version 2.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.112 | RAD21 | Arina Puzriakova Phenotypes for gene: RAD21 were changed from Cornelia De Lange to Cornelia de Lange syndrome 4, OMIM:614701 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.111 | ROR2 | Arina Puzriakova Phenotypes for gene: ROR2 were changed from Robinow to Robinow syndrome, autosomal recessive, OMIM:268310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.110 | FOXP4 |
Eleanor Williams Tag Q2_21_rating tag was added to gene: FOXP4. Tag Q2_21_expert_review tag was added to gene: FOXP4. |
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Growth failure in early childhood v1.110 | SETD5 | Eleanor Williams Tag Q4_21_rating tag was added to gene: SETD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.110 | MAPK1 | Eleanor Williams Tag Q4_21_rating tag was added to gene: MAPK1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.110 | KMT2D | Eleanor Williams Tag Q4_21_rating tag was added to gene: KMT2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.110 | BTK | Eleanor Williams Tag Q4_21_rating tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.110 | NLRP2 | Eleanor Williams commented on gene: NLRP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.110 | NLRP2 |
Eleanor Williams Tag Q2_21_expert_review was removed from gene: NLRP2. Tag Q3_22_rating tag was added to gene: NLRP2. Tag Q3_22_expert_review tag was added to gene: NLRP2. |
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Growth failure in early childhood v1.110 | MRAS | Eleanor Williams commented on gene: MRAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.110 | MRAS |
Eleanor Williams Tag Q4_21_expert_review was removed from gene: MRAS. Tag Q3_22_rating tag was added to gene: MRAS. Tag Q3_22_expert_review tag was added to gene: MRAS. |
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Growth failure in early childhood v1.110 | KDM3B | Sarah Leigh Phenotypes for gene: KDM3B were changed from Global developmental delay; Intellectual disability; Short stature; Behavioral abnormality; Seizures to Diets-Jongmans syndrome, OMIM:618846; Diets-Jongmans syndrome, MONDO:0030012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.109 | PAPPA2 | Ivone Leong Tag Q3_22_rating tag was added to gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.109 | PAPPA2 | Ivone Leong Tag Q3_22_expert_review tag was added to gene: PAPPA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.109 | GINS3 | Ivone Leong Phenotypes for gene: GINS3 were changed from Meier-Gorlin syndrome like to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.108 | GINS3 | Ivone Leong Classified gene: GINS3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.108 | GINS3 | Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is enough evidence to support a gene-disease association; however, other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel (Growth failure) due to the phenotype not fitting the scope of this panel. Therefore, this gene has been given a Red rating and will be moved to the Severe microcephaly panel (panel ID: 162), where it should be promoted to be Green status at the next review. GINS3 variants might act in a dominant-negative way. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.108 | GINS3 | Ivone Leong Gene: gins3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.107 | GINS2 | Ivone Leong Classified gene: GINS2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.107 | GINS2 | Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. There is currently not enough evidence to support a gene-disease association and other genes associated with Meier-Gorlin syndrome has been given a Red rating in this panel due to the phenotype being not fitting the scope of this panel. Therefore, this gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.107 | GINS2 | Ivone Leong Gene: gins2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.106 | GINS2 | Ivone Leong Phenotypes for gene: GINS2 were changed from Meier-Gorlin syndrome like to Meier-Gorlin syndrome like; Meier-Gorlin syndrome, MONDO:0016817 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.105 | GINS3 |
Dmitrijs Rots gene: GINS3 was added gene: GINS3 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: GINS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS3 were set to 35603789 Phenotypes for gene: GINS3 were set to Meier-Gorlin syndrome like Penetrance for gene: GINS3 were set to unknown Mode of pathogenicity for gene: GINS3 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: GINS3 was set to GREEN Added comment: 7 individuals from 5 families with hypomorphic variant affecting same codon p.D24 with functional evidence reported in PMID:35603789. Enough evidence for green list. Sources: Literature |
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Growth failure in early childhood v1.105 | GINS2 |
Dmitrijs Rots gene: GINS2 was added gene: GINS2 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: GINS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS2 were set to 34353863 Phenotypes for gene: GINS2 were set to Meier-Gorlin syndrome like Penetrance for gene: GINS2 were set to unknown Mode of pathogenicity for gene: GINS2 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: GINS2 was set to AMBER Added comment: 1 patient with biallelic variant and functional studies reported in pmid:34353863 Sources: Literature |
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Growth failure in early childhood v1.105 | NHLRC2 | Eleanor Williams Tag gene-checked tag was added to gene: NHLRC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.105 | HESX1 | Arina Puzriakova Phenotypes for gene: HESX1 were changed from Septo-optic dysplasia; variable involvement of pituitary hormones to Growth hormone deficiency with pituitary anomalies, OMIM:182230; Pituitary hormone deficiency, combined, 5, OMIM:182230; Septooptic dysplasia, OMIM:182230 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.104 | IGF1R | Arina Puzriakova Phenotypes for gene: IGF1R were changed from Insulin-Like Growth Factor I Resistance; Insulin likegrowthfactorI,resistanceto,270450; 15q-Del to Insulin-like growth factor I, resistance to, OMIM:270450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.103 | BRIP1 | Arina Puzriakova Phenotypes for gene: BRIP1 were changed from Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J to Fanconi anemia, complementation group J, OMIM:609054 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.102 | BRCA2 | Arina Puzriakova Phenotypes for gene: BRCA2 were changed from Fanconi anemia, complementation group D1, 605724; 605724 Fanconi anemia, complementation group D1 to Fanconi anemia, complementation group D1, OMIM:605724 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37429-Loss | Arina Puzriakova commented on Region: ISCA-37429-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37420-Loss | Arina Puzriakova commented on Region: ISCA-37420-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37397-Loss | Arina Puzriakova commented on Region: ISCA-37397-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37406-Loss | Ivone Leong commented on Region: ISCA-37406-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37392-Loss | Arina Puzriakova commented on Region: ISCA-37392-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37392-Loss |
Arina Puzriakova GRCh38 position for ISCA-37392-Loss was changed from 73330451-74728175 to 73330452-74728172. Required Overlap Percentage for ISCA-37392-Loss was changed from 80 to 60. |
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Growth failure in early childhood v1.101 | ISCA-37429-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37429-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.101 | ISCA-37397-Loss |
Arina Puzriakova GRCh38 position for ISCA-37397-Loss was changed from 21443089-23306926 to 21562828-23306924. Required Overlap Percentage for ISCA-37397-Loss was changed from 80 to 60. |
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Growth failure in early childhood v1.101 | ISCA-37420-Loss |
Arina Puzriakova GRCh38 position for ISCA-37420-Loss was changed from 45608879-46087510 to 45627800-46087514. Required Overlap Percentage for ISCA-37420-Loss was changed from 80 to 60. |
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Growth failure in early childhood v1.101 | ISCA-37406-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NHLRC2 | Ivone Leong Tag for-review was removed from gene: NHLRC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | COG4 | Ivone Leong Tag for-review was removed from gene: COG4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | ANAPC1 | Ivone Leong Tag for-review was removed from gene: ANAPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NBAS | Ivone Leong Tag for-review was removed from gene: NBAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | ZFP57 | Ivone Leong Tag for-review was removed from gene: ZFP57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | PLK4 | Ivone Leong Tag for-review was removed from gene: PLK4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | MSTO1 | Ivone Leong Tag Q1_22_MOI tag was added to gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | MSTO1 | Ivone Leong edited their review of gene: MSTO1: Added comment: MOI should be changed from "Biallelic" to "Both monoallelic and biallelic".; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | MTX2 | Ivone Leong Tag for-review was removed from gene: MTX2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | MSTO1 | Ivone Leong Tag for-review was removed from gene: MSTO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | INTS1 | Ivone Leong Tag for-review was removed from gene: INTS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | CEP57 | Ivone Leong Tag for-review was removed from gene: CEP57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | PADI6 | Ivone Leong Tag for-review was removed from gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NLRP7 | Ivone Leong Tag for-review was removed from gene: NLRP7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NLRP5 | Ivone Leong Tag for-review was removed from gene: NLRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | PADI6 | Ivone Leong commented on gene: PADI6: Submitted on behalf of NHS GMS "This gene does not go on the panel as linked to MLID and suggest separate panel for this. Genes NLRP5, NLRP7, PAD16, NLRP2 & KHDC3L" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NLRP7 | Ivone Leong commented on gene: NLRP7: Submitted on behalf of NHS GMS "This gene does not go on the panel as linked to MLID and suggest separate panel for this. Genes NLRP5, NLRP7, PAD16, NLRP2 & KHDC3L" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NLRP5 | Ivone Leong commented on gene: NLRP5: Submitted on behalf of NHS GMS "This gene does not go on the panel as linked to MLID and suggest separate panel for this. Genes NLRP5, NLRP7, PAD16, NLRP2 & KHDC3L" | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NHLRC2 | Ivone Leong commented on gene: NHLRC2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | COG4 | Ivone Leong commented on gene: COG4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | ANAPC1 | Ivone Leong commented on gene: ANAPC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NBAS | Ivone Leong commented on gene: NBAS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | ZFP57 | Ivone Leong commented on gene: ZFP57: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | PLK4 | Ivone Leong commented on gene: PLK4: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | MTX2 | Ivone Leong commented on gene: MTX2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | MSTO1 | Ivone Leong commented on gene: MSTO1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | INTS1 | Ivone Leong commented on gene: INTS1: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | CEP57 | Ivone Leong commented on gene: CEP57: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | PADI6 | Ivone Leong commented on gene: PADI6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NLRP7 | Ivone Leong commented on gene: NLRP7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.100 | NLRP5 | Ivone Leong commented on gene: NLRP5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.99 | NHLRC2 |
Ivone Leong Source Expert Review Green was added to NHLRC2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | COG4 |
Ivone Leong Source Expert Review Green was added to COG4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | ANAPC1 |
Ivone Leong Source Expert Review Green was added to ANAPC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | NBAS |
Ivone Leong Source Expert Review Green was added to NBAS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | ZFP57 |
Ivone Leong Source Expert Review Green was added to ZFP57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | PLK4 |
Ivone Leong Source Expert Review Green was added to PLK4. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | MTX2 |
Ivone Leong Source Expert Review Green was added to MTX2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | MSTO1 |
Ivone Leong Source Expert Review Green was added to MSTO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | INTS1 |
Ivone Leong Source Expert Review Green was added to INTS1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.99 | CEP57 |
Ivone Leong Source Expert Review Green was added to CEP57. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Growth failure in early childhood v1.98 | POU1F1 | Arina Puzriakova Phenotypes for gene: POU1F1 were changed from GH, PRL deficiencies; variable degree of TSH deficiency to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038; Variable degree of TSH deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.97 | SPRED2 | Ivone Leong Entity copied from Intellectual disability v3.1496 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.97 | SPRED2 |
Ivone Leong gene: SPRED2 was added gene: SPRED2 was added to Growth failure in early childhood. Sources: Literature,Expert Review Amber Q1_22_rating tags were added to gene: SPRED2. Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPRED2 were set to 34626534 Phenotypes for gene: SPRED2 were set to developmental delay; intellectual disability; cardiac defects; short stature; skeletal anomalies; a typical facial gestalt |
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Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong changed review comment from: Comment on publications: PMID:33650182 a third case reported with growth failure and ID.; to: Comment on publications: PMID:33650182 a third case reported with growth failure and second case with ID | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong Tag Q4_21_rating tag was added to gene: RNPC3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong edited their review of gene: RNPC3: Added comment: There is now enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.96 | RNPC3 | Ivone Leong Phenotypes for gene: RNPC3 were changed from Pituitary hormone deficiency, combined or isolated, 7, 618160 to Pituitary hormone deficiency, combined or isolated, 7, OMIM:618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.95 | RNPC3 | Ivone Leong Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 to Pituitary hormone deficiency, combined or isolated, 7, 618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.94 | RNPC3 | Ivone Leong Added comment: Comment on publications: PMID:33650182 a third case reported with growth failure and ID. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.94 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542; 29866761; 32462814 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.93 | PAPPA2 | Ivone Leong Publications for gene: PAPPA2 were set to 26902202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.92 | SHOX | Ivone Leong Tag Pseudoautosomal region 1 tag was added to gene: SHOX. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.92 | KMT2D | Ivone Leong Tag Q4_21_phenotype tag was added to gene: KMT2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.92 | BTK | Ivone Leong Tag Q4_21_expert_review tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.92 | BTK | Ivone Leong Tag Q4_21_phenotype tag was added to gene: BTK. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.92 | BTK | Ivone Leong Classified gene: BTK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.92 | BTK |
Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. BTK is confirmed to be associated with isolated growth hormone deficiency in OMIM but not in Gene2Phenotype. There are >3 unrelated cases of patients diagnosed with growth hormone deficiency who have variants in BTK. There is enough evidence to support a gene-disease association. This gene is also Green on the Pituitary hormone deficiency (ID: 483, version 2.7). This gene has been tagged for review by the GMS specialist group to determine whether this gene is appropriate for this panel. |
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Growth failure in early childhood v1.92 | BTK | Ivone Leong Gene: btk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.91 | BTK | Ivone Leong Mode of inheritance for gene: BTK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.90 | KMT2D | Ivone Leong Tag Q4_21_expert_review tag was added to gene: KMT2D. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.90 | PAPPA2 | Dmitrijs Rots reviewed gene: PAPPA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33875846, 26902202; Phenotypes: Short stature, dysmorphism, mild microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.90 | MAPK1 |
Ivone Leong Tag Q4_21_expert_review tag was added to gene: MAPK1. Tag Q4_21_phenotype tag was added to gene: MAPK1. |
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Growth failure in early childhood v1.90 | MRAS | Ivone Leong Tag Q4_21_expert_review tag was added to gene: MRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.90 | SETD5 |
Ivone Leong Tag Q4_21_expert_review tag was added to gene: SETD5. Tag Q4_21_phenotype tag was added to gene: SETD5. |
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Growth failure in early childhood v1.90 | SETD5 | Ivone Leong Classified gene: SETD5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.90 | SETD5 | Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is associated with a phenotype in OMIM and Gene2Phenotype (confirmed). As the severity of some of these cases were not stated in the publications, this gene has been added to the panel as Amber and have been flagged to be reviewed by the GMS expert review panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.90 | SETD5 | Ivone Leong Gene: setd5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.89 | SETD5 | Ivone Leong Phenotypes for gene: SETD5 were changed from Mental retardation, autosomal dominant 23, OMIM:615761 to Mental retardation, autosomal dominant 23, OMIM:615761; growth retardation; bone fragility | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.88 | SETD5 | Ivone Leong Phenotypes for gene: SETD5 were changed from intellectual disability; developmental delay; growth retardation; bone fragility to Mental retardation, autosomal dominant 23, OMIM:615761 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.87 | SETD5 | Ivone Leong Publications for gene: SETD5 were set to PMID: 28881385 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.86 | GGPS1 |
Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. PMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature. There is enough evidence to support a gene-disease association. This gene should be Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. PMID:32403198 all 6 unrelated families are from different ethnic backgrounds and all had missense variants (hom or compound het). All have muscle dystrophy, contractures were noted in the more severe patients (4/11), 10/11 hearing loss, 3/3 affected females have ovariant insufficiency (other 3 females are undetermined due to age), 8/10 failure to thrive/short stature. Currently there is uncertain clinical relevance of this gene to growth failure phenotype. Therefore, this gene has been given an Amber rating until more evidence is available. |
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Growth failure in early childhood v1.86 | GGPS1 | Ivone Leong Tag Q4_21_rating was removed from gene: GGPS1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.86 | GGPS1 | Ivone Leong Entity copied from Congenital muscular dystrophy v2.18 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.86 | GGPS1 |
Ivone Leong gene: GGPS1 was added gene: GGPS1 was added to Growth failure in early childhood. Sources: Literature,Expert Review Amber Q4_21_rating tags were added to gene: GGPS1. Mode of inheritance for gene: GGPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GGPS1 were set to 32403198 Phenotypes for gene: GGPS1 were set to Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome, OMIM:619518 |
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Growth failure in early childhood v1.85 | RAD51 | Arina Puzriakova Classified gene: RAD51 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.85 | RAD51 |
Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update - 3 unrelated cases with relevant phenotype and different de novo variants. Phenotype-gene relationship listed in OMIM (MIM# 617244). Other FA genes have been included on this panel as Green. |
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Growth failure in early childhood v1.85 | RAD51 | Arina Puzriakova Gene: rad51 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.84 | RAD51 |
Arina Puzriakova gene: RAD51 was added gene: RAD51 was added to Growth failure in early childhood. Sources: Literature Q4_21_rating tags were added to gene: RAD51. Mode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAD51 were set to 26681308; 26253028; 30907510 Phenotypes for gene: RAD51 were set to Fanconi anemia, complementation group R, OMIM:617244 Review for gene: RAD51 was set to GREEN Added comment: Three unrelated patients have been identified to date (PMIDs: 26681308; 26253028; 30907510) with an atypical FA phonotype involving chromosomal instability without bone marrow failure or malignancies along with private heterozygous variants (c.877G>A; c.391A>C; c.725A>G) in the RAD51 gene. Variants occurred de novo with a dominant negative effect. All three individuals presented with thumb and radial abnormalities, microcephaly, and DD/ID (third patient showed early DD but above average IQ by age 13); and two individuals also had growth retardation (probable in third case but not reported on) and hearing impairment. Sources: Literature |
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Growth failure in early childhood v1.83 | ZNF668 | Ivone Leong Entity copied from Intellectual disability v3.1332 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.83 | ZNF668 |
Ivone Leong gene: ZNF668 was added gene: ZNF668 was added to Growth failure in early childhood. Sources: Expert Review Amber,Literature watchlist tags were added to gene: ZNF668. Mode of inheritance for gene: ZNF668 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF668 were set to 34313816; 26633546 Phenotypes for gene: ZNF668 were set to DNA damage repair defect; microcephaly; growth deficiency; severe global developmental delay; brain malformation; facial dysmorphism |
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Growth failure in early childhood v1.82 | VPS50 |
Ivone Leong changed review comment from: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 34037727. Both patients have severe microcephaly (-7.65 to -10.35 z-score), height at 2 years (-2.65 to -3.84 z-score), seizures, hypoplastic coprus callosum, neonatal cholestasis and feeding difficulties. Based on the available evidence there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating.; to: Comment on list classification: New gene added by Konstantinos Varvagiannis (Other). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 34037727. Both patients have severe microcephaly (-7.65 to -10.35 z-score), height at 2 years (-2.65 to -3.84 z-score), seizures, hypoplastic corpus callosum, neonatal cholestasis and feeding difficulties. Based on the available evidence there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. |
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Growth failure in early childhood v1.82 | VPS50 | Ivone Leong Entity copied from Intellectual disability v3.1322 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.82 | VPS50 |
Ivone Leong gene: VPS50 was added gene: VPS50 was added to Growth failure in early childhood. Sources: Expert Review Amber,Literature watchlist tags were added to gene: VPS50. Mode of inheritance for gene: VPS50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: VPS50 were set to 34037727 Phenotypes for gene: VPS50 were set to Neonatal cholestatic liver disease; Failure to thrive; Profound global developmental delay; Postnatal microcephaly; Seizures; Abnormality of the corpus callosum Penetrance for gene: VPS50 were set to Complete |
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Growth failure in early childhood v1.81 | BTK | Ivone Leong Phenotypes for gene: BTK were changed from to Isolated growth hormone deficiency, type III, with agammaglobulinaemia, OMIM:307200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.80 | BTK | Ivone Leong Publications for gene: BTK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.79 | MRAS | Ivone Leong Publications for gene: MRAS were set to 28289718; 31173466; 31108500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.78 | MRAS | Ivone Leong Classified gene: MRAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.78 | MRAS |
Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (confirmed). PMID: 28289718. 2 patients with a clinical diagnosis of Noonan syndrome were reported. Case 1: 15 yo girl with biventricular HCM that presented in infancy. She had short stature, facial dysmorphisms, global DD and cognitive disability. Parents are unaffected. Case 2: 6 yo girl with cardiac hypertrophy, pulmonary valve stenosis, atrial septal defect, facial dysmorphisms, ptosis and DD. Both patients had de novo missense variants. PMID: 31173466. 3 yo Japanese boy. Diagnosed with HCM during neonatal period, bilateral sensoineural hearing impairment, difficulty feeding at 4 months (poor weight gain), short stature, relative macrocephaly, height at 1 year 3 months was -3.0 SD, facial dysmorphisms. Patient had de novo missense variant. PMID: 31108500. Case 1: North African Jewish descent. Birth length -1.1 SD, birth weight -1.1 SD. 14 months LV HCM. 15 months growth delay (height and weight -2.0 SD). Moderate hearing loss, mild global DD, GH deficiency. 2 years 3 months, height and weight was -2.0 SD and OCF +1.0 SD, facial dysmorphisms (suggestive of NS). Case 2: Germany. HCM, facial dysmorphisms and short neck. PMID: 34080768. HCM at birth and facial dysmorphisms. While there are >3 unrelated cases the patients in the article did not meet the criteria set out for this panel. This gene has been given an Amber rating for now. |
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Growth failure in early childhood v1.78 | MRAS | Ivone Leong Gene: mras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.77 | MRAS | Ivone Leong Phenotypes for gene: MRAS were changed from Noonan syndrome 11, MIM#618499 to Noonan syndrome 11, OMIM:618499 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.76 | MRAS | Ivone Leong Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.75 | MAPK1 | Ivone Leong Classified gene: MAPK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.75 | MAPK1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype (probable). There is enough evidence to support a gene-disease association; however, the patients in the article did not meet the criteria set out for this panel. However, will check with the Genomics England Clinical Team. Therefore, this gene has been given an Amber rating until further confirmation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.75 | MAPK1 | Ivone Leong Gene: mapk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.74 | MAPK1 | Ivone Leong Phenotypes for gene: MAPK1 were changed from Noonan syndrome 13, MIM#619087 to Noonan syndrome 13, OMIM:619087 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.73 | RRAS2 | Ivone Leong Phenotypes for gene: RRAS2 were changed from Noonan syndrome 12, MIM #618624 to Noonan syndrome 12, OMIM:618624 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.72 | RRAS2 | Ivone Leong Classified gene: RRAS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.72 | RRAS2 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.72 | RRAS2 | Ivone Leong Gene: rras2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | RRAS2 | Ivone Leong Tag Q3_21_rating tag was added to gene: RRAS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | MAPK1 |
Zornitza Stark gene: MAPK1 was added gene: MAPK1 was added to Growth failure in early childhood. Sources: Expert Review 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, MIM#619087 Mode of pathogenicity for gene: MAPK1 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: MAPK1 was set to GREEN Added comment: Motta et al (2020 - PMID: 32721402) report on 7 unrelated individuals harboring de novo missense MAPK1 pathogenic variants. The phenotype corresponded to a neurodevelopmental disorder and - as the authors comment - consistently included DD, ID , behavioral problems. Postnatal growth delay was observed in approximately half. Hypertelorism, ptosis, downslant of palpebral fissures, wide nasal bridge as low-set/posteriorly rotated ears were among the facial features observed (each in 3 or more subjects within this cohort). Together with short/webbed neck and abnormalities of skin (lentigines / CAL spots) and growth delay these led to clinical suspicion of Noonan s. or disorder of the same pathway in some. Congenital heart defects (ASD, mitral valve insufficiency, though not cardiomyopathy) occurred in 4/7. Bleeding diathesis and lymphedema were reported only once. MAPK1 encodes the mitogen-activated protein kinase 1 (also known as ERK2) a serine/threonine kinase of the RAS-RAF-MEK-(MAPK/)ERK pathway. MAPK1 de novo variants were identified in all individuals following trio exome sequencing (and extensive previous genetic investigations which were non-diagnostic). The distribution of variants, as well as in silico/vitro/vivo studies suggest a GoF effect (boosted signal through the MAPK cascade. MAPK signaling also upregulated in Noonan syndrome). Sources: Expert Review |
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Growth failure in early childhood v1.71 | RRAS2 |
Zornitza Stark gene: RRAS2 was added gene: RRAS2 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RRAS2 were set to 31130282 Phenotypes for gene: RRAS2 were set to Noonan syndrome 12, MIM #618624 Mode of pathogenicity for gene: RRAS2 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: RRAS2 was set to GREEN Added comment: Six unrelated families reported, GoF variants. Sources: Expert Review |
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Growth failure in early childhood v1.71 | KMT2D | Zornitza Stark reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 31949313, 32083401, 21882399; Phenotypes: Kabuki syndrome 1, MIM# 147920, KMT2D-associated neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | MRAS |
Zornitza Stark gene: MRAS was added gene: MRAS was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MRAS were set to 28289718; 31173466; 31108500; 31173466 Phenotypes for gene: MRAS were set to Noonan syndrome 11, MIM#618499 Review for gene: MRAS was set to GREEN Added comment: Other Rasopathy genes included in this panel. At least 6 unrelated individuals reported. Sources: Expert Review |
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Growth failure in early childhood v1.71 | BTK | Zornitza Stark reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 9554752; Phenotypes: Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | SETD5 |
Dmitrijs Rots gene: SETD5 was added gene: SETD5 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SETD5 were set to PMID: 28881385 Phenotypes for gene: SETD5 were set to intellectual disability; developmental delay; growth retardation; bone fragility Penetrance for gene: SETD5 were set to Incomplete Review for gene: SETD5 was set to GREEN Added comment: In 13/25 published cases in the literature (sumarized in PMID: 28881385), growth retardation is reported. Additionally, two cases with bone fragility reported PMID: 34169511. Sources: Literature |
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Growth failure in early childhood v1.71 | NLRP2 | Sarah Leigh commented on gene: NLRP2: The Q2_21_expert_review tag has been added for the TEWG to consider whether or not the epigenetic effects of maternal variants in NLRP2 have in their children is appropriate for a Green gene rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | NLRP2 | Sarah Leigh Tag Q2_21_expert_review tag was added to gene: NLRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | NLRP2 | Sarah Leigh changed review comment from: Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; to: Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arrest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | KDM3B |
Ivone Leong Tag Q2_21_rating was removed from gene: KDM3B. Tag watchlist tag was added to gene: KDM3B. |
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Growth failure in early childhood v1.71 | KDM3B | Ivone Leong changed review comment from: After consulting with the Genomics England Clinical Team it was decided that this gene should be promoted to Green status at the next review.; to: After consulting with the Genomics England Clinical Team it was decided that this gene should be added to this panel. However, there is currently not enough evidence to support a gene-disease association. This gene has been given an Amber rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | KDM3B | Ivone Leong Entity copied from Intellectual disability v3.1146 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.71 | KDM3B |
Ivone Leong gene: KDM3B was added gene: KDM3B was added to Growth failure in early childhood. Sources: Victorian Clinical Genetics Services,Expert Review Amber Q2_21_rating tags were added to gene: KDM3B. Mode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KDM3B were set to 30929739 Phenotypes for gene: KDM3B were set to Global developmental delay; Intellectual disability; Short stature; Behavioral abnormality; Seizures |
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Growth failure in early childhood v1.70 | ZPR1 | Ivone Leong Classified gene: ZPR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.70 | ZPR1 | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association. This gene has been given a Red rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.70 | ZPR1 | Ivone Leong Gene: zpr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.69 | ZPR1 | Ivone Leong Tag founder-effect tag was added to gene: ZPR1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.69 | ZPR1 | Ivone Leong Added comment: Comment on publications: PMID: 29851065. 4 affected individuals from 3 families of New Mexican Hispanic heritage, residing in the middle Rio Grande Valley. 3/4 died at ages 12-33 months. 2/4 severe microcephaly at birth (<-3SD, other 2 have moderate microcephaly -2SD), 4/4 severe microcephaly postnatal (-4SD to -6.5 SD), 4/4 growth restriction, 4/4 alopecia, 4/4 hypopigmented porcelain-like skin at birth, 4/4 hypoplastic kidneys, 3/4 optic atrophy, 1/4 retinal dystrophy and night blindness, 4/4 distinctive facial features, 4/4 congenital sensorineural hearing loss, 4/4 joint contractures or congenital hip dislocation, 1/4 diabetes (1 other patient has sparse hypotrophic islets of Langerhans), 3/4 acquired increased adiposity, 3/3 hydrocephalus. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.69 | ZPR1 | Ivone Leong Publications for gene: ZPR1 were set to 29851065 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.68 | ZPR1 | Ivone Leong Phenotypes for gene: ZPR1 were changed from Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321 to ?Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies, OMIM:619321 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.67 | ZPR1 |
Zornitza Stark gene: ZPR1 was added gene: ZPR1 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: ZPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZPR1 were set to 29851065 Phenotypes for gene: ZPR1 were set to Growth restriction, hypoplastic kidneys, alpecia, and distinctive facies 619321 Review for gene: ZPR1 was set to RED Added comment: 3 families reported with growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF). All were Hispanic families from the middle Rio Grande Valley. Homozygous missense identified in one family, p. Ile196Thr. Others unavailable for testing, founder effect postulated. Sources: Literature |
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Growth failure in early childhood v1.67 | DNA2 | Arina Puzriakova Publications for gene: DNA2 were set to PMC3912419 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.66 | DNA2 | Arina Puzriakova commented on gene: DNA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.66 | DNA2 | Arina Puzriakova Phenotypes for gene: DNA2 were changed from seckel syndrome to Seckel syndrome 8, OMIM:615807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.65 | FOXP4 | Ivone Leong Classified gene: FOXP4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.65 | FOXP4 | Ivone Leong Gene: foxp4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.64 | FOXP4 |
Ivone Leong gene: FOXP4 was added gene: FOXP4 was added to Growth failure in early childhood. Sources: Literature Q2_21_phenotype tags were added to gene: FOXP4. Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities Review for gene: FOXP4 was set to AMBER Added comment: This gene is associated with a phenotype in Gene2Phenotype but not in OMIM. This gene is present as an Amber gene on the Intellectual disability panel (Version 3.1052) with the following reviews: "This gene is a little bit difficult to place, may be Green on Fetal Anomalies panel? Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays, hence Amber rating here. Sources: Literature Zornitza Stark (Australian Genomics), 4 Nov 2020" "Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). As ID is not present in the majority of affected patients, and the affected individuals only show mild ID, this gene has been given an Amber rating. Ivone Leong (Genomics England Curator), 4 Dec 2020" After discussion with the Genomics England Clinical Team it was decided that this gene should be added to this panel as an Amber gene and subject to review by the GMS specialist group. Sources: Literature |
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Growth failure in early childhood v1.63 | NLRP2 | Sarah Leigh Publications for gene: NLRP2 were set to 26323243; 29574422; 19300480; 30877238; 33090377 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.62 | NLRP2 | Sarah Leigh edited their review of gene: NLRP2: Added comment: Maternal bialliec variants may result in: epigentic distubance of IC2 in imprinting region at 11p15.5 in trans, resulting in Beckwith-Wiedemann syndrome (PMID 19300480), early embryonic arest, (causing infertility)(PMID 30877238). These findings are supported by a mouse knock out model (PMID 33090377). At least 9 human NLRP2 variants have been identified in families with the above clinical features.; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.62 | NLRP2 | Sarah Leigh Publications for gene: NLRP2 were set to 26323243; 29574422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.61 | NLRP7 | Sarah Leigh Added comment: Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.61 | NLRP7 | Sarah Leigh Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.60 | PADI6 | Sarah Leigh Added comment: Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.60 | PADI6 | Sarah Leigh Mode of inheritance for gene: PADI6 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.59 | NLRP5 | Sarah Leigh changed review comment from: Comment on mode of inheritance: Comment from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder; to: Comment on mode of inheritance: Review from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.59 | NLRP5 | Sarah Leigh Added comment: Comment on mode of inheritance: Comment from Eamonn Maher: I think it would be better that these are maternal effect genes for which biallelic variants in a healthy women cause a reproductive phenotype that may include miscarriage, hydatidiform mole or children with a congenital imprinting disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.59 | NLRP5 | Sarah Leigh Mode of inheritance for gene: NLRP5 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.58 | CCDC186 | Sarah Leigh Classified gene: CCDC186 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.58 | CCDC186 | Sarah Leigh Gene: ccdc186 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.57 | CCDC186 |
Sarah Leigh gene: CCDC186 was added gene: CCDC186 was added to Growth failure in early childhood. Sources: Literature watchlist tags were added to gene: CCDC186. Mode of inheritance for gene: CCDC186 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC186 were set to 33259146; 28600779 Phenotypes for gene: CCDC186 were set to failure to thrive and developmental delay Review for gene: CCDC186 was set to AMBER Added comment: Not associated with a relevant phenotype in OMIM or Gen2Phen. At least 2 terminating variants reported in cases with failure to thrive and developmental delay. Sources: Literature |
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Growth failure in early childhood v1.56 | ZFP57 | Sarah Leigh Phenotypes for gene: ZFP57 were changed from Phenotypes consistent with hypomethylation at multiple imprinted loci to Diabetes mellitus, transient neonatal 1 OMIM:601410; diabetes mellitus, transient neonatal, 1MONDO:0011073; IUGR; Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.55 | ZFP57 | Sarah Leigh reviewed gene: ZFP57: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.55 | KHDC3L |
Sarah Leigh Tag for-review was removed from gene: KHDC3L. Tag watchlist tag was added to gene: KHDC3L. |
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Growth failure in early childhood v1.55 | KHDC3L | Sarah Leigh Phenotypes for gene: KHDC3L were changed from IUGR; Failure to thrive; hydatidiform mole; pregnancy loss to IUGR; Failure to thrive; Hydatidiform mole, recurrent, 2 OMIM:614293; hydatidiform mole, recurrent, 2 MONDO:0013671; pregnancy loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.54 | KHDC3L | Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.54 | KHDC3L | Sarah Leigh Mode of inheritance for gene: KHDC3L was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.53 | PADI6 | Sarah Leigh Phenotypes for gene: PADI6 were changed from Short stature; IUGR; miscarriages in the family; beckwith weidemann syndrome in the family to Short stature; IUGR; miscarriages in the family; Preimplantation embryonic lethality 2 OMIM:617234; preimplantation embryonic lethality 2 MONDO:0014978; Beckwith-Wiedemann syndrome; Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.52 | NLRP7 | Sarah Leigh changed review comment from: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).; to: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP7 variants in Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.52 | NLRP7 | Sarah Leigh edited their review of gene: NLRP7: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.52 | NLRP5 | Sarah Leigh changed review comment from: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust), as variants in this gene are associated with Multi Locus Imprinting Disturbances. .; to: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust) for the involvement of NLRP5 variants in Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.52 | NLRP7 | Sarah Leigh Phenotypes for gene: NLRP7 were changed from IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance; Hydatidiform mole, recurrent, 1 OMIM:231090; hydatidiform mole, recurrent, 1 MONDO:0009273 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.51 | NLRP7 | Sarah Leigh Phenotypes for gene: NLRP7 were changed from IUGR; Short stature; fetal wastage to IUGR; Short stature; fetal wastage; Multi Locus Imprinting Disturbance | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.50 | NLRP7 | Sarah Leigh Added comment: Comment on mode of inheritance: MOI based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.50 | NLRP7 | Sarah Leigh Mode of inheritance for gene: NLRP7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.49 | NLRP5 | Sarah Leigh Phenotypes for gene: NLRP5 were changed from IUGR; Short stature; Failure to thrive; body asymmetry to IUGR; Short stature; Failure to thrive; body asymmetry; multilocus imprinting disturbances | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | NLRP5 | Sarah Leigh edited their review of gene: NLRP5: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | NLRP5 | Sarah Leigh changed review comment from: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust).; to: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust), as variants in this gene are associated with Multi Locus Imprinting Disturbances. . | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | NLRP2 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | NLRP2 | Sarah Leigh Tag watchlist tag was added to gene: NLRP2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | NLRP2 | Sarah Leigh edited their review of gene: NLRP2: Added comment: Not associated with relevant phenotype in OMIM or in Gen2Phen. As a NLRP gene, NLRP2 has epigenetic control of imprinted regions that are part of Multi Locus Imprinting Disturbances.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | ZFP57 | Ivone Leong Classified gene: ZFP57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | ZFP57 | Ivone Leong Added comment: Comment on list classification: Promoted from Red to Amber. The GMS specialist group needs to determine whether this phenotype is appropriate for the panel. If appropriate then can be promoted to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.48 | ZFP57 | Ivone Leong Gene: zfp57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.47 | ZFP57 | Ivone Leong Tag for-review tag was added to gene: ZFP57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.47 | ZFP57 | Ivone Leong Publications for gene: ZFP57 were set to PMID: 18622393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.46 | KHDC3L | Sarah Leigh Mode of inheritance for gene: KHDC3L was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.45 | KHDC3L | Sarah Leigh Publications for gene: KHDC3L were set to Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.44 | KHDC3L | Sarah Leigh Classified gene: KHDC3L as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.44 | KHDC3L | Sarah Leigh Gene: khdc3l has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.43 | KHDC3L | Sarah Leigh Tag for-review tag was added to gene: KHDC3L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.43 | PADI6 | Sarah Leigh Tag for-review tag was added to gene: PADI6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.43 | PADI6 | Sarah Leigh Classified gene: PADI6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.43 | PADI6 | Sarah Leigh Gene: padi6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.42 | PADI6 | Sarah Leigh reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.42 | PADI6 | Sarah Leigh Publications for gene: PADI6 were set to 32928291; 29574422; 33221824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.42 | PADI6 | Sarah Leigh Publications for gene: PADI6 were set to Eur J Hum Genet. 2020 Nov 21. doi: 10.1038/s41431-020-00762-0. Online ahead of print. Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. Eggermann T(1), Kadgien G(2), Begemann M(3), Elbracht M(3). Clin Epigenetics. 2020 Sep 14; 12(1):139. doi: 10.1186/s13148-020-00925-2. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. Maria Vittoria Cubellis 1, Laura Pignata 2, Ankit Verma 2 3, Angela Sparago 2, Rosita Del Prete 2, Maria Monticelli 1, Luciano Calzari 4, Vincenzo Antona 5, Daniela Melis 6, Romano Tenconi 7, Silvia Russo 4, Flavia Cerrato 8, Andrea Riccio 9 10 PMID: 32928291 PMCID: PMC7489023 DOI: 10.1186/s13148-020-00925-2. Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.41 | NLRP7 | Sarah Leigh Classified gene: NLRP7 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.41 | NLRP7 | Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.41 | NLRP7 | Sarah Leigh Gene: nlrp7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.40 | NLRP7 | Sarah Leigh Publications for gene: NLRP7 were set to Eur J Hum Genet. 2017 Aug; 25(8):924-929. PMID: 28561018 doi: 10.1038/ejhg.2017.94. Epub 2017 May 31. Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring. Soellner L(1), Begemann M(1), Degenhardt F(2), Geipel A(3), Eggermann T(1), Mangold E(2). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.39 | NLRP7 | Sarah Leigh Tag for-review tag was added to gene: NLRP7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.39 | NLRP5 | Sarah Leigh Classified gene: NLRP5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.39 | NLRP5 | Sarah Leigh Added comment: Comment on list classification: Based on review from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.39 | NLRP5 | Sarah Leigh Gene: nlrp5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.38 | NLRP5 | Sarah Leigh Publications for gene: NLRP5 were set to Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Claire LS Turner, Emma Kivuva, Eamonn R Maher, Sarah F Smithson, Julian P Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I Karen Temple, and Deborah JG Mackay, Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humans. Nature Communications: 2015, 6: 8086. PMID: 26323243 DOI: 10.1038/ncomms9086. PMC4568303 Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.37 | NLRP5 | Sarah Leigh Tag for-review tag was added to gene: NLRP5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.37 | NLRP2 | Sarah Leigh Classified gene: NLRP2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.37 | NLRP2 | Sarah Leigh Added comment: Comment on list classification: Based on request from Professor Karen Temple (Clinical Genetics, University Hospital Southampton NHS Foundation Trust). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.37 | NLRP2 | Sarah Leigh Gene: nlrp2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.36 | NLRP2 | Sarah Leigh Phenotypes for gene: NLRP2 were changed from to Maternal effect gene- causing phenotypes that include IUGR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.35 | NLRP2 | Sarah Leigh Publications for gene: NLRP2 were set to PMID: 2632; 3243 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.34 | ZFP57 | Karen Temple reviewed gene: ZFP57: Rating: ; Mode of pathogenicity: None; Publications: Mackay DJG, JLA Calloway, SM Marks, HE White, CL Acerini, SE Boonan, P Dayanikli, HV Firth, JA Goodship, AP Haemers, JMD Hahnemann, O Kordonouri, AF Masoud, E Ostergaard, J Storr, S Ellard, AT Hattersley, DO Robinson, IK Temple. Hypomethylation at multiple imprinted loci in individuals with transient neonatal diabetes is associated with ZFP57 mutations Nature Genetics: 2008, 40: 949-51. PMID: 18622393. DOI: 10.1038/ng.187; Phenotypes: IUGR, transient neonatal diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.34 | KHDC3L |
Karen Temple gene: KHDC3L was added gene: KHDC3L was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: KHDC3L was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KHDC3L were set to Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 Phenotypes for gene: KHDC3L were set to IUGR; Failure to thrive; hydatidiform mole; pregnancy loss Penetrance for gene: KHDC3L were set to unknown Review for gene: KHDC3L was set to RED Added comment: This is another maternal affect gene that predisposes to multi locus imprinting disturbance and can likely cause a phenoytpe in the Silver Russell spectrum. Findings of mutations in the mother would lead to methylation testing in the offspring/ proband/ products of cenception. Although there are not many examples of SRS being caused by this gene it is likely that it will be a cause given that it causes recurrent hydatidiform mole (which is a severe form of MLID testing) Sources: Expert list |
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Growth failure in early childhood v1.34 | PADI6 |
Karen Temple gene: PADI6 was added gene: PADI6 was added to Growth failure in early childhood. Sources: Expert Review Mode of inheritance for gene: PADI6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PADI6 were set to Eur J Hum Genet. 2020 Nov 21. doi: 10.1038/s41431-020-00762-0. Online ahead of print. Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family. Eggermann T(1), Kadgien G(2), Begemann M(3), Elbracht M(3). Clin Epigenetics. 2020 Sep 14; 12(1):139. doi: 10.1186/s13148-020-00925-2. Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance. Maria Vittoria Cubellis 1, Laura Pignata 2, Ankit Verma 2 3, Angela Sparago 2, Rosita Del Prete 2, Maria Monticelli 1, Luciano Calzari 4, Vincenzo Antona 5, Daniela Melis 6, Romano Tenconi 7, Silvia Russo 4, Flavia Cerrato 8, Andrea Riccio 9 10 PMID: 32928291 PMCID: PMC7489023 DOI: 10.1186/s13148-020-00925-2. Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 Phenotypes for gene: PADI6 were set to Short stature; IUGR; miscarriages in the family; beckwith weidemann syndrome in the family Penetrance for gene: PADI6 were set to unknown Review for gene: PADI6 was set to GREEN Added comment: PADi6 - there is good evidence that maternal mutations predispose to multi locus imprinting disturbance which can cause IUGR in the spectrum of SRS OR overgrowth in the spectrum of BWS. Mutations in the mother would lead to further investigation of methylation aberrations in the affected offspring/ products of conception. Sources: Expert Review |
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Growth failure in early childhood v1.34 | NLRP7 |
Karen Temple gene: NLRP7 was added gene: NLRP7 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NLRP7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NLRP7 were set to Eur J Hum Genet. 2017 Aug; 25(8):924-929. PMID: 28561018 doi: 10.1038/ejhg.2017.94. Epub 2017 May 31. Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring. Soellner L(1), Begemann M(1), Degenhardt F(2), Geipel A(3), Eggermann T(1), Mangold E(2). Phenotypes for gene: NLRP7 were set to IUGR; Short stature; fetal wastage Penetrance for gene: NLRP7 were set to unknown Review for gene: NLRP7 was set to GREEN Added comment: NOte that this gene is tested for in recurrent hydatidiform mole. But some pregnancies progress with growth disorders due to multilocus imprinting disturbance. This can missed on genome testing and so patients require methylation testing at imprinted loci to confirm The mutation in NLRP7 is in the mother of the proband. Sources: Expert list |
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Growth failure in early childhood v1.34 | NLRP5 |
Karen Temple gene: NLRP5 was added gene: NLRP5 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NLRP5 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP5 were set to Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Claire LS Turner, Emma Kivuva, Eamonn R Maher, Sarah F Smithson, Julian P Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I Karen Temple, and Deborah JG Mackay, Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humans. Nature Communications: 2015, 6: 8086. PMID: 26323243 DOI: 10.1038/ncomms9086. PMC4568303 Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422 DOI: 10.1136/jmedgenet-2017-105190; PMC6047157 Phenotypes for gene: NLRP5 were set to IUGR; Short stature; Failure to thrive; body asymmetry Penetrance for gene: NLRP5 were set to unknown Review for gene: NLRP5 was set to GREEN Added comment: A number of patients with IUGR and failure of catch up have an imprinting error (withiin the spectrum of Silver Russell syndrome, temple syndrome) that is caused by mutations in NLRP5 in the MOTHER of the patient. Note that LOF mutations (homozygous or heterozygous mutations) identified in the mother would lead to further patient testing for multilocus imprinting disturbance through methylation testing. Sources: Expert list |
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Growth failure in early childhood v1.34 | NLRP2 | Karen Temple reviewed gene: NLRP2: Rating: ; Mode of pathogenicity: None; Publications: Begemann, M., Rezwan, F. I., Beygo, J., Docherty, L. E., Kolarova, J., Schroeder, C., Karin Buiting, Kamal Chokkalingam, Franziska Degenhardt, Emma L Wakeling, Stephanie Kleinle, Daniela González Fassrainer, Barbara Oehl-Jaschkowitz, Claire L S Turner, Michal Patalan, Maria Gizewska, Gerhard Binder, Can Thi Bich Ngoc, Vu Chi Dung, Sarju G Mehta, Gareth Baynam, Julian P Hamilton-Shield, Sara Aljareh, Oluwakemi Lokulo-Sodipe, Rachel Horton, Reiner Siebert, Miriam Elbracht, I Karen Temple, Thomas Eggermann, Mackay, D. J. G.. Maternal variants in NLRP and other maternal-effect proteins are associated with multi-locus imprinting disturbance in offspring. Journal of Medical Genetics, 2018 55:497–504. PMID: 29574422DOI: 10.1136/jmedgenet-2017-105190, PMC6047157Louise E Docherty, Faisal I Rezwan, Rebecca L Poole, Claire LS Turner, Emma Kivuva, Eamonn R Maher, Sarah F Smithson, Julian P Hamilton-Shield, Michal Patalan, Maria Gizewska, Jaroslaw Peregud-Pogorzelski, Jasmin Beygo, Karin Buiting, Bernhard Horsthemke, Lukas Soellner, Matthias Begemann, Thomas Eggermann, Emma Baple, Sahar Mansour, I Karen Temple, and Deborah JG Mackay, Mutations in NLRP5 are associated with reproductive wastage and multi-locus imprinting disorders in humans. Nature Communications: 2015, 6: 8086. PMID: 26323243DOI: 10.1038/ncomms9086. PMC4568303; Phenotypes: Maternal effect gene- causing phenotypes that include IUGR.; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.34 | HMGA2 | Arina Puzriakova Phenotypes for gene: HMGA2 were changed from SRS; Silver-Russell syndrome to Silver-Russell syndrome 5, OMIM:618908; Silver-Russell syndrome 5, MONDO:0020795 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.33 | NLRP2 |
Karen Temple gene: NLRP2 was added gene: NLRP2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: NLRP2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: NLRP2 were set to PMID: 2632; 3243 Penetrance for gene: NLRP2 were set to unknown |
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Growth failure in early childhood v1.33 | PLK4 | Ivone Leong Classified gene: PLK4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.33 | PLK4 | Ivone Leong Gene: plk4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.32 | PLK4 |
Ivone Leong gene: PLK4 was added gene: PLK4 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: PLK4. Mode of inheritance for gene: PLK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLK4 were set to 25344692; 25320347; 27650967 Phenotypes for gene: PLK4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 2, OMIM:616171; microcephaly and chorioretinopathy 2, MONDO:0014516 Review for gene: PLK4 was set to AMBER Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 25344692 describes 3 unrelated families with affected individuals who have biallelic variants in PLK4. All affected individuals have impaired growth/short stature. In one family 3 out of 7 affected individuals have an eye phenotype (ranging from microcornea, microphthalmia and cataract). Family 2 had retinopathy and family 3 did not have an eye exam performed. PMID: 27650967 describes a case where the affected individual has bilateral microphthalmia and persistant hyperplastic primary vitreous of the left eye. The affected individual also has growth impairment. PMID: 25320347 describes a case where the affected individuals have retinopathy and impaired growth. There are >3 unrelated cases and therefore enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be considered for Green status at the next review. Sources: Literature |
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Growth failure in early childhood v1.31 | MSTO1 | Ivone Leong Classified gene: MSTO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.31 | MSTO1 | Ivone Leong Gene: msto1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.30 | MSTO1 |
Ivone Leong gene: MSTO1 was added gene: MSTO1 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: MSTO1. Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942 Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, OMIM:617675 Review for gene: MSTO1 was set to AMBER Added comment: This gene is associated with a relevant phenotype in OMIM and not in Gene2Phenotype. There are at least 7 unrelated cases who are biallelic for variants in this gene and 1 family of patients (4 affected) who are monoallelic for variants in this gene. For patients who are biallelic, there are 3 cases that reported pigmentary retinopathy. 5 out of 7 cases had growth impairments. For patients who are monoallelic there are no ophthalmological findings and growth impairment was only reported for 1 affected individual. Based on the available evidence about individuals with biallelic variants, this gene has been given an Amber rating but should be considered for Green status at the next review. Sources: Literature |
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Growth failure in early childhood v1.29 | SMC1A | Arina Puzriakova Phenotypes for gene: SMC1A were changed from Cornelia De Lange to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370; Developmental and epileptic encephalopathy 85, with or without midline brain defects, OMIM:301044; Developmental and epileptic encephalopathy, 85, with or without midline brain defects, MONDO:0026771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.28 | NHLRC2 | Eleanor Williams Classified gene: NHLRC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.28 | NHLRC2 | Eleanor Williams Added comment: Comment on list classification: On recommendation of Genomics England clinical team, changing rating from red to amber with recommendation of review by the GMS with regards to phenotypic fit for this panel. Sufficient cases to make green if appropriate. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.28 | NHLRC2 | Eleanor Williams Gene: nhlrc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.27 | NHLRC2 | Eleanor Williams Tag for-review tag was added to gene: NHLRC2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.27 | NHLRC2 |
Eleanor Williams gene: NHLRC2 was added gene: NHLRC2 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: NHLRC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHLRC2 were set to 29423877; 32435055 Phenotypes for gene: NHLRC2 were set to FINCA syndrome OMIM:618278 Review for gene: NHLRC2 was set to GREEN Added comment: PMID: 29423877 Uusimaa et al 2018 - report 3 patients from 2 unrelated non-consanguineous Finnish families in which the children were born asymptomatic but by 2 months of age they had developed a progressive multi-organ disorder. The main clinical features included progressive cerebropulmonary symptoms, malabsorption, progressive growth failure, recurrent infections, chronic haemolytic anaemia and transient liver dysfunction. All three patients were found using WES to be compound heterozygous for NM_198514:c.442G>T, p.Asp148Tyr and c.601_602delAG, p.Arg201GlyfsTer6. Segregation data for both families is provided. The family history of the two families, traced back 7–9 generations, showed that they did not have common ancestors. Both variants are rare in both Finnish (Sequencing Initiative Suomi - 0.003 and 0.0001 respectively) and non-Finnish populations (Exac). Patient fibroblasts expressed only mRNA with the c.442G>T missense variant, and at low levels. Development of Nhlrc2 null mice stalled before the morula stage. Morpholino knockdown of nhlrc2 in zebrafish embryos showed that nhlrc2 has a role in cellular integrity of the central nervous system during development. PMID: 32435055 - Brodsky et al 2020 - report a 2 year old Ukranian patient with FINCA syndrome who was found by WES to have compound heterozygous variants in NHLRC2 (c.442T>G, p.D148Y and c.428C>A, p.H143P). The c.428C>A variant is not found in the gnomAD database. Each parent was a carrier for one of the variants. Sources: Literature |
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Growth failure in early childhood v1.26 | RAP1B | Ivone Leong Classified gene: RAP1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.26 | RAP1B | Ivone Leong Gene: rap1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.25 | RAP1B |
Ivone Leong gene: RAP1B was added gene: RAP1B was added to Growth failure in early childhood. Sources: Literature watchlist tags were added to gene: RAP1B. Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAP1B were set to 32627184; 26280580 Phenotypes for gene: RAP1B were set to Syndromic intellectual disability; short stature Review for gene: RAP1B was set to AMBER Added comment: This gene is associated with a phenotype in Gene2Phenotype but not OMIM. PMID: 32627184 describes 2 patients. 36 yo patient of non-consanguineous parents. Had unclear pancytopenia, multiple congenital malformations, mild intellectual disability, endocrine disorders (short stature with growth hormone deficiency), dysmorphism and other features. Parents and sibling unaffected. 13 yo of non-consanguineous parents with thrombocytopenia, multiple congenital anomalies and learning difficulties. He had normal developmental milestones, walk was achieved at 14 months and there was no speech delay. He attended mainstream school with auxiliary help because of learning difficulties with graphism, syntaxic comprehension, logical reasoning and attention deficit. Parents and siblings unaffected. PMID: 26280580 describes another patient with variant in RAP1B. The clinical features can be found in supplementary table 2. The table lists ID, but doesn't say severity and lists a host of other features including short stature, facial dysmorphism and skeletal findings. All 3 cases seem to have a very wide spectrum of differing phenotypes and therefore, this gene has been given an Amber rating until further evidence is available. Sources: Literature |
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Growth failure in early childhood v1.24 | COG4 | Ivone Leong Classified gene: COG4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.24 | COG4 | Ivone Leong Gene: cog4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.23 | COG4 |
Ivone Leong gene: COG4 was added gene: COG4 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: COG4. Mode of inheritance for gene: COG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COG4 were set to 31949312; 30290151 Phenotypes for gene: COG4 were set to Saul-Wilson syndrome, OMIM:618150; microcephalic osteodysplastic dysplasia, Saul-Wilson type, MONDO:0019407 Mode of pathogenicity for gene: COG4 was set to Other Review for gene: COG4 was set to AMBER Added comment: This gene is associated with a phenotype in OMIM and Gene2Phenotype. This gene was added to the Cataracts panel by Zornitza Stark (Australian Genomics). "Saul-Wilson syndrome (AD): 14 patients reported with DD, skeletal changes, cataracts, and growth retardation (progeriod like) All have a recurrent de novo heterozygous missense variant (p.Gly516Arg). Please note bi-allelic variants cause CDG. Sources: Expert list Zornitza Stark (Australian Genomics), 7 Jul 2020" PMID: 30290151, many of the affected patients also have short stature and the authors suggest that the Saul-Wilson syndrome variant is gain of function. After consulting the Genomics England Clinical Team, it was suggested that this gene should be added to this panel for the short stature phenotype. However, the GMS specialist group should review whether the short stature is likely associated with the underlying skeletal findings. Therefore, this gene has been given an Amber rating until further review from the GMS specialist group to see if the phenotype is appropriate for this panel. Sources: Literature |
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Growth failure in early childhood v1.22 | ANAPC1 | Ivone Leong Classified gene: ANAPC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.22 | ANAPC1 | Ivone Leong Gene: anapc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.21 | ANAPC1 |
Ivone Leong gene: ANAPC1 was added gene: ANAPC1 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: ANAPC1. Mode of inheritance for gene: ANAPC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANAPC1 were set to 31303264 Phenotypes for gene: ANAPC1 were set to Rothmund Thomson syndrome type 1, OMIM:618625, MONDO:0016368 Review for gene: ANAPC1 was set to AMBER Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. PMID: 31303264 describes 10 patients from 7 families with Rothmund-Thomson syndrome. 4 of 7 families are homozygous for the same intronic variant (c.2705-198C-T) and the remaining 3 affected families are compound heterozygous (c.2705-198C-T with another variant in the gene). Affected individuals from families who are compound heterozygous have growth retardation. There is enough evidence to support a gene-disease association. However, this gene should be reviewed at the next panel update to see if this should be rated Green. Sources: Literature |
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Growth failure in early childhood v1.20 | INTS8 |
Ivone Leong gene: INTS8 was added gene: INTS8 was added to Growth failure in early childhood. Sources: Literature Mode of inheritance for gene: INTS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS8 were set to 28542170 Phenotypes for gene: INTS8 were set to ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, OMIM:618572 Review for gene: INTS8 was set to RED Added comment: PMID: 28542170 describes one Dutch family with 3 affected children. All 3 children are compound heterozygous for variants in INTS8 and all three have growth retardation. Sources: Literature |
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Growth failure in early childhood v1.19 | INTS1 | Ivone Leong edited their review of gene: INTS1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.19 | INTS1 | Ivone Leong Classified gene: INTS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.19 | INTS1 | Ivone Leong Gene: ints1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.18 | INTS1 |
Ivone Leong gene: INTS1 was added gene: INTS1 was added to Growth failure in early childhood. Sources: Literature for-review tags were added to gene: INTS1. Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 30622326; 31428919 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:618571, MONDO:0032817 Review for gene: INTS1 was set to AMBER Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are at least 6 unrelated families where affected individuals have growth retardarion. There is enough evidence to support a gene-disease association. This gene should be made Green at the next review. Sources: Literature |
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Growth failure in early childhood v1.17 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked, 312000; Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.16 | MTX2 | Ivone Leong Classified gene: MTX2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.16 | MTX2 | Ivone Leong Gene: mtx2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.15 | MTX2 |
Ivone Leong gene: MTX2 was added gene: MTX2 was added to Growth failure in early childhood. Sources: Literature,Expert Review for-review tags were added to gene: MTX2. 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; lipodystrophy; arterial calcification; growth retardation Review for gene: MTX2 was set to GREEN Added comment: The Genomics England Clinical Team suggested that this gene should be added to this panel as growth retardation is a phenotype. Therefore, this gene has been given an Amber rating and will be promoted to Green at the next review. Review from Zornitza Stark on the Lipodystrophy - childhood onset: "Seven individuals from 5 unrelated families reported with severe progeroid form of MAD with growth retardation, small viscerocranium with mandibular underdevelopment, distal acro-osteolyses, lipodystrophy, altered skin pigmentation, renal focal glomerulosclerosis, and extremely severe hypertension in most cases, eventually associated with disseminated arterial calcification. Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment. Furthermore, patients' fibroblasts were resistant to induced apoptosis, leading to increased cell senescence and mitophagy and reduced proliferation. Sources: Literature Zornitza Stark (Australian Genomics), 5 Oct 2020" Sources: Literature, Expert Review |
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Growth failure in early childhood v1.14 | CEP57 | Arina Puzriakova Classified gene: CEP57 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.14 | CEP57 | Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.14 | CEP57 | Arina Puzriakova Gene: cep57 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.13 | CEP57 | Arina Puzriakova Tag for-review tag was added to gene: CEP57. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.13 | RNPC3 | Ivone Leong Classified gene: RNPC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.13 | RNPC3 |
Ivone Leong Added comment: Comment on list classification: Based on the available evidence and expert review, this gene has been promoted from Red to Amber. This gene is associated with a relevant phenotype on OMIM. The family described in PMIDs 24480542 and 29866761 are the same. The 3 sisters in this family had GH deficiency only. PMID: 32462814 had GH deficiency and almost undetectable levels of prolactin as well. |
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Growth failure in early childhood v1.13 | RNPC3 | Ivone Leong Gene: rnpc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.12 | RNPC3 | Ivone Leong Publications for gene: RNPC3 were set to 24480542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.11 | RNPC3 | Ivone Leong Phenotypes for gene: RNPC3 were changed from isolated growth hormone deficiency to isolated growth hormone deficiency; ?Growth hormone deficiency, isolated, type V, 618160 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.10 | RNPC3 | Zornitza Stark reviewed gene: RNPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29866761, 32462814; Phenotypes: Growth hormone deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.10 | NBAS | Ivone Leong Classified gene: NBAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.10 | NBAS | Ivone Leong Gene: nbas has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.9 | NBAS |
Ivone Leong gene: NBAS was added gene: NBAS was added to Growth failure in early childhood. Sources: Expert list for-review tags were added to gene: NBAS. Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 31761904 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 Review for gene: NBAS was set to AMBER Added comment: There are >3 unrelated cases of patients with variants in NBAS who has short stature. Variants in this gene causes a wide range of symptoms that affect the liver, skeletal system and eyes. This gene has been given an Amber review and tagged with "for-review" for the next major update of this panel. Sources: Expert list |
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Growth failure in early childhood v1.8 | CEP57 | Ivone Leong Classified gene: CEP57 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.8 | CEP57 | Ivone Leong Added comment: Comment on list classification: Gene added by Ellen Thomas (Genomics England Curator). Given Green status as suggested as there are >3 unrelated cases for this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.8 | CEP57 | Ivone Leong Gene: cep57 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.7 | CEP57 | Ivone Leong Phenotypes for gene: CEP57 were changed from Mosaic variegated aneuploidy syndrome 2 to Mosaic variegated aneuploidy syndrome 2, 614114 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.5 | Catherine Snow Panel version has been signed off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.4 | Catherine Snow Panel signed off version has been removed | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.3 | IGF2 | Louise Daugherty Tag watchlist was removed from gene: IGF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.3 | IGF2 | Louise Daugherty commented on gene: IGF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.3 | CEP57 |
Ellen Thomas gene: CEP57 was added gene: CEP57 was added to Growth failure in early childhood. Sources: Other Mode of inheritance for gene: CEP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP57 were set to 24259107; 21552266 Phenotypes for gene: CEP57 were set to Mosaic variegated aneuploidy syndrome 2 Review for gene: CEP57 was set to GREEN Added comment: Phenotype includes IUGR and growth failure; green on other panels Sources: Other |
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Growth failure in early childhood v1.1 | PLAG1 | Ivone Leong Mode of inheritance for gene: PLAG1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v1.0 | Ivone Leong promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.63 | Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.62 | Ivone Leong List of related panels changed from to R147 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.61 | SPRED1 | Ivone Leong Classified gene: SPRED1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.61 | SPRED1 | Ivone Leong Gene: spred1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.60 | SPRED1 | Ivone Leong changed review comment from: After clinical discussion it was decided to keep SPRED1 amber as the growth phenotype is not predominant.; to: After clinical discussion it was decided that SPRED1 is demoted to red status as the growth phenotype is not predominant and therefore not appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.60 | SPRED1 | Ivone Leong commented on gene: SPRED1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.58 | SOS1 | Ivone Leong Publications for gene: SOS1 were set to 17143285; 17143282; 17586837; PMID: 19438935 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.57 | SHOC2 | Ivone Leong Publications for gene: SHOC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.56 | RIT1 | Ivone Leong Publications for gene: RIT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.55 | RAF1 | Ivone Leong Publications for gene: RAF1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.54 | PTPN11 | Ivone Leong Publications for gene: PTPN11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.53 | PLAG1 | Ivone Leong Phenotypes for gene: PLAG1 were changed from SRS to SRS; Silver-Russell syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.52 | PLAG1 | Ivone Leong Publications for gene: PLAG1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.51 | NRAS | Ivone Leong Publications for gene: NRAS were set to Nat Genet. 42: 27-29, 2010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.50 | MAP2K2 | Ivone Leong Publications for gene: MAP2K2 were set to 16439621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.49 | MAP2K1 | Ivone Leong Publications for gene: MAP2K1 were set to 16825433, 16439621; 21396583; 23321623 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.48 | MAP2K1 | Ivone Leong Publications for gene: MAP2K1 were set to 16825433, 16439621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.47 | KRAS | Ivone Leong Publications for gene: KRAS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.46 | HRAS | Ivone Leong Publications for gene: HRAS were set to 16170316 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.45 | HMGA2 | Ivone Leong Phenotypes for gene: HMGA2 were changed from SRS to SRS; Silver-Russell syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.44 | HMGA2 | Ivone Leong Publications for gene: HMGA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.43 | FANCL | Ivone Leong Publications for gene: FANCL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.42 | FANCI | Ivone Leong Publications for gene: FANCI were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.41 | FANCG | Ivone Leong Publications for gene: FANCG were set to 16493006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.40 | FANCF | Ivone Leong Publications for gene: FANCF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.39 | FANCE | Ivone Leong Publications for gene: FANCE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.38 | FANCD2 | Ivone Leong Publications for gene: FANCD2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.37 | FANCC | Ivone Leong Publications for gene: FANCC were set to 16493006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.36 | FANCA | Ivone Leong Publications for gene: FANCA were set to 16493006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.35 | CBL | Ivone Leong Publications for gene: CBL were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.34 | BRAF | Ivone Leong Publications for gene: BRAF were set to 16825433, 16474404; 19206169; 21396583 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.33 | BRAF | Ivone Leong Publications for gene: BRAF were set to 16825433, 16474404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37429-Loss | Rebecca Foulger commented on Region: ISCA-37429-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37420-Loss | Rebecca Foulger commented on Region: ISCA-37420-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37406-Loss | Rebecca Foulger commented on Region: ISCA-37406-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37397-Loss | Rebecca Foulger commented on Region: ISCA-37397-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37392-Loss | Rebecca Foulger commented on Region: ISCA-37392-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37429-Loss | Rebecca Foulger Classified Region: ISCA-37429-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.32 | ISCA-37429-Loss | Rebecca Foulger Region: isca-37429-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.31 | ISCA-37420-Loss | Rebecca Foulger Classified Region: ISCA-37420-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.31 | ISCA-37420-Loss | Rebecca Foulger Region: isca-37420-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.30 | ISCA-37406-Loss | Rebecca Foulger Classified Region: ISCA-37406-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.30 | ISCA-37406-Loss | Rebecca Foulger Region: isca-37406-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.29 | ISCA-37397-Loss | Rebecca Foulger Classified Region: ISCA-37397-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.29 | ISCA-37397-Loss | Rebecca Foulger Region: isca-37397-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.28 | ISCA-37392-Loss | Rebecca Foulger Classified Region: ISCA-37392-Loss as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.28 | ISCA-37392-Loss | Rebecca Foulger Region: isca-37392-loss has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | SPRED1 | Rebecca Foulger reviewed gene: SPRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17704776, 19366998, 19443465, 21649642, 21548021; Phenotypes: Legius Syndrome, Neurofibromatosis-like syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | SOS2 | Rebecca Foulger reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 25795793, 26173643; Phenotypes: Noonan syndrome 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | SOS1 | Rebecca Foulger reviewed gene: SOS1: 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: 19438935, 17143285, 17143282, 17586837; Phenotypes: Noonan syndrome, Noonan syndrome 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | SHOC2 | Rebecca Foulger reviewed gene: SHOC2: 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: 19684605, 22528146, 23918763; Phenotypes: Noonan-like syndrome with loose anagen hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | RIT1 | Rebecca Foulger reviewed gene: RIT1: 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: 23791108, 25124994, 24939608; Phenotypes: Noonan syndrome 8, Noonan syndrome type 8; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | RAF1 | Rebecca Foulger reviewed gene: RAF1: 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: 17603483, 17603482; Phenotypes: Noonan syndrome, Noonan syndrome 5, LEOPARD syndrome, LEOPARD syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | PTPN11 | Rebecca Foulger reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 17603483, 11704759, 12529711, 12634870, 15384080, 15240615, 16263833, 17497712, 18678287; Phenotypes: LEOPARD syndrome, LEOPARD syndrome 1, Noonan syndrome, Noonan syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | PPP1CB | Rebecca Foulger reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: 27264673, 28211982, 27681385; Phenotypes: Noonan syndrome-like disorder with loose anagen hair 2, 617506, Rasopathy with developmental delay, short stature and sparse slow-growing hair; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | NRAS | Rebecca Foulger reviewed gene: NRAS: 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: 19966803, 19775298; Phenotypes: Noonan syndrome, Noonan syndrome 6, Cardio-Facio-cutanenous syndrome, CFC Syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | MAP2K2 | Rebecca Foulger reviewed gene: MAP2K2: 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: 21396583, 23379592; Phenotypes: Cardiofaciocutaneous syndrome 4, Cardio-Facio-Cutaneous syndrome type 4, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome, CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | MAP2K1 | Rebecca Foulger reviewed gene: MAP2K1: 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: 21396583, 23321623 (publication referring to Noonan syndrome association).; Phenotypes: Cardiofaciocutaneous syndrome 3, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome, CFC syndrome, LEOPARD syndrome, ?Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | LZTR1 | Rebecca Foulger reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25795793, 29469822; Phenotypes: Noonan syndrome 10, Prenatal hydrops, increased nuchal translucency, cardiac findings; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | KRAS | Rebecca Foulger reviewed gene: KRAS: 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: 21396583; Phenotypes: Noonan syndrome 3, Noonan syndrome, Cardiofaciocutaneous syndrome 2, Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous syndrome, CFC syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | HRAS | Rebecca Foulger reviewed gene: HRAS: 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: 16170316, 16969868, 16443854, 21396583; Phenotypes: Costello syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | CBL | Rebecca Foulger reviewed gene: CBL: 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: 20619386, 20543203, 19571318; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.27 | BRAF | Rebecca Foulger reviewed gene: BRAF: 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: 19206169, 21396583; Phenotypes: LEOPARD Syndrome, Noonan Syndrome, Cardiofaciocutaneous Syndrome, LEOPARD syndrome 3, Cardio-facio-cutaneous syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.26 | SPRED1 |
Rebecca Foulger gene: SPRED1 was added gene: SPRED1 was added to Growth failure in early childhood. Sources: Expert Review Amber Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPRED1 were set to 19443465; 21548021; 21649642; 19366998; 17704776 Phenotypes for gene: SPRED1 were set to Legius Syndrome; Neurofibromatosis-like syndrome |
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Growth failure in early childhood v0.26 | SOS2 |
Rebecca Foulger gene: SOS2 was added gene: SOS2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SOS2 were set to 26173643; 25795793 Phenotypes for gene: SOS2 were set to Noonan syndrome 9 Mode of pathogenicity for gene: SOS2 was set to Other - please provide details in the comments |
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Growth failure in early childhood v0.26 | SOS1 |
Rebecca Foulger Mode of pathogenicity for gene SOS1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome; Noonan syndrome 4 for gene: SOS1 Publications for gene SOS1 were changed from to 17143285; 17143282; 17586837; PMID: 19438935 |
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Growth failure in early childhood v0.26 | SHOC2 |
Rebecca Foulger Mode of pathogenicity for gene SHOC2 was changed from Other - 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 Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2 |
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Growth failure in early childhood v0.26 | RIT1 |
Rebecca Foulger Mode of pathogenicity for gene RIT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome 8; Noonan syndrome type 8 for gene: RIT1 |
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Growth failure in early childhood v0.26 | RAF1 |
Rebecca Foulger Mode of pathogenicity for gene RAF1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome; LEOPARD syndrome; LEOPARD syndrome 2; Noonan syndrome 5 for gene: RAF1 |
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Growth failure in early childhood v0.26 | PTPN11 | Rebecca Foulger Added phenotypes LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome 1; Noonan syndrome for gene: PTPN11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.26 | PPP1CB |
Rebecca Foulger gene: PPP1CB was added gene: PPP1CB was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PPP1CB were set to 27264673; 27681385; 28211982 Phenotypes for gene: PPP1CB were set to Noonan syndrome-like disorder with loose anagen hair 2, 617506; Rasopathy with developmental delay, short stature and sparse slow-growing hair |
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Growth failure in early childhood v0.26 | NRAS |
Rebecca Foulger Mode of pathogenicity for gene NRAS was changed from Other - 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 Added phenotypes Noonan syndrome; CFC Syndrome; Noonan syndrome 6; Cardio-Facio-cutanenous syndrome for gene: NRAS |
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Growth failure in early childhood v0.26 | MAP2K2 |
Rebecca Foulger Mode of pathogenicity for gene MAP2K2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous Syndrome; Cardiofaciocutaneous syndrome 4; Cardio-Facio-Cutaneous syndrome type 4; CFC syndrome for gene: MAP2K2 |
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Growth failure in early childhood v0.26 | MAP2K1 |
Rebecca Foulger Mode of pathogenicity for gene MAP2K1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes LEOPARD syndrome; CFC syndrome; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome for gene: MAP2K1 |
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Growth failure in early childhood v0.26 | LZTR1 |
Rebecca Foulger gene: LZTR1 was added gene: LZTR1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LZTR1 were set to 29469822; 25795793 Phenotypes for gene: LZTR1 were set to Noonan syndrome 10; increased nuchal translucency; Prenatal hydrops; cardiac findings |
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Growth failure in early childhood v0.26 | KRAS |
Rebecca Foulger Mode of pathogenicity for gene KRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome; CFC syndrome; Noonan syndrome 3; Cardiofaciocutaneous syndrome 2; Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome for gene: KRAS |
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Growth failure in early childhood v0.26 | HRAS |
Rebecca Foulger Mode of pathogenicity for gene HRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Costello syndrome for gene: HRAS |
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Growth failure in early childhood v0.26 | CBL |
Rebecca Foulger Mode of pathogenicity for gene CBL was changed from Other - 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 Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia for gene: CBL |
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Growth failure in early childhood v0.26 | BRAF |
Rebecca Foulger Mode of pathogenicity for gene BRAF was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Cardio-facio-cutaneous syndrome; Noonan Syndrome; LEOPARD syndrome 3 for gene: BRAF |
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Growth failure in early childhood v0.25 | UBE2T | Rebecca Foulger reviewed gene: UBE2T: Rating: AMBER; Mode of pathogenicity: ; Publications: 26046368; Phenotypes: 616435 Fanconi anemia, complementation group T, Falcon anemia, Fanconi anemia, complementation group T, 616435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | TOP3A | Rebecca Foulger reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 MGRISCE2 (Bloom-like syndrome), MGRISCE2 (Bloom-like syndrome) 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | SLX4 | Rebecca Foulger reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: 21240275, 21240277; Phenotypes: Fanconi Anemia, 613951 Fanconi Anemia Fanconi anemia, complementation group P, Fanconi anemia, complementation group P, 613951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | PALB2 | Rebecca Foulger reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17200672, 17200671; Phenotypes: Fanconi anemia, complementation group N, 610832, 610832 Fanconi anemia, complementation group N; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCL | Rebecca Foulger reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: 16474160, 12724401, 25754594, 12973351, 19405097; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group L, 614083, 614083Fanconi anemia, complementation group L; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCI | Rebecca Foulger reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: 17452773, 11239453; Phenotypes: Fanconi anemia, complementation group I, 609053, Fanconi Anemia, 609053 Fanconi anemia, complementation group I; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCG | Rebecca Foulger reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: 9806548; Phenotypes: Fanconi Anemia, 614082 Fanconi anemia, complementation group G, Fanconi anemia, complementation group G, 614082; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCF | Rebecca Foulger reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: 10615118; Phenotypes: Fanconi Anemia, 603467 Fanconi anemia, complementation group F, Fanconi anemia, complementation group F, 603467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCE | Rebecca Foulger reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 9147877, 9382107, 10205272, 7662964; Phenotypes: Fanconi Anemia, Fanconi anemia, complementation group E, 600901, 600901 Fanconi anemia, complementation group E; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCD2 | Rebecca Foulger reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 11239454; Phenotypes: Fanconi Anemia, 227646 Fanconi anemia, complementation group D2, Fanconi anemia, complementation group D2, 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCC | Rebecca Foulger reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: 1574115; Phenotypes: Fanconi Anemia, 227645 Fanconi anemia, complementation group C, Fanconi anemia, complementation group C, 227645; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCB | Rebecca Foulger reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Falcon anemia, Fanconi Anemia Type B, 300514 Fanconi anemia, complementation group B, Fanconi Anemia, X-Linked, Fanconi Anaemia, Fanconi anemia, complementation group B, 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | FANCA | Rebecca Foulger reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: 8896563; Phenotypes: Fanconi anemia, complementation group A, 227650, Fanconi anemia, 227650 Fanconi anemia complementation group A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | ERCC4 | Rebecca Foulger reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24027083, 23623386, 23623389; Phenotypes: Fanconi anemia, complementation group Q, 615272, 615272 Fanconi anemia, complementation group Q; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | BRIP1 | Rebecca Foulger reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16116424, 16153896, 14630800, 16116423; Phenotypes: 609054 Fanconi anemia, complementation group J, Fanconi anemia, complementation group J, 609054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | BRCA2 | Rebecca Foulger reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28185119, 14670928, 12065746, 11239453, 24395671; Phenotypes: 605724 Fanconi anemia, complementation group D1, Fanconi anemia, complementation group D1, 605724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.25 | BLM | Rebecca Foulger edited their review of gene: BLM: Added comment: Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that Green genes associated with the Fanconi anaemia phenotype should be included on this panel. Therefore kept on the panel as a Green gene.; Changed phenotypes: 210900 Bloom syndrome, Bloom syndrome, 210900; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | UBE2T |
Rebecca Foulger gene: UBE2T was added gene: UBE2T was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE2T were set to 26046368 Phenotypes for gene: UBE2T were set to Falcon anemia; 616435 Fanconi anemia, complementation group T; Fanconi anemia, complementation group T, 616435 |
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Growth failure in early childhood v0.24 | TOP3A |
Rebecca Foulger gene: TOP3A was added gene: TOP3A was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TOP3A were set to MGRISCE2 (Bloom-like syndrome) 618097; Microcephaly, growth restriction, and increased sister chromatid exchange 2; 618097 MGRISCE2 (Bloom-like syndrome) |
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Growth failure in early childhood v0.24 | SLX4 |
Rebecca Foulger gene: SLX4 was added gene: SLX4 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLX4 were set to 21240277; 21240275 Phenotypes for gene: SLX4 were set to 613951 Fanconi Anemia Fanconi anemia, complementation group P; Fanconi anemia, complementation group P, 613951; Fanconi Anemia |
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Growth failure in early childhood v0.24 | PALB2 |
Rebecca Foulger gene: PALB2 was added gene: PALB2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PALB2 were set to 17200672; 17200671 Phenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, 610832; 610832 Fanconi anemia, complementation group N |
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Growth failure in early childhood v0.24 | FANCL | Rebecca Foulger Added phenotypes Fanconi anemia, complementation group L, 614083; 614083Fanconi anemia, complementation group L; Fanconi Anemia for gene: FANCL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCI | Rebecca Foulger Added phenotypes Fanconi anemia, complementation group I, 609053; 609053 Fanconi anemia, complementation group I; Fanconi Anemia for gene: FANCI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCG | Rebecca Foulger Added phenotypes 614082 Fanconi anemia, complementation group G; Fanconi anemia, complementation group G, 614082; Fanconi Anemia for gene: FANCG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCF | Rebecca Foulger Added phenotypes Fanconi anemia, complementation group F, 603467; 603467 Fanconi anemia, complementation group F; Fanconi Anemia for gene: FANCF | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCE | Rebecca Foulger Added phenotypes Fanconi anemia, complementation group E, 600901; 600901 Fanconi anemia, complementation group E; Fanconi Anemia for gene: FANCE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCD2 | Rebecca Foulger Added phenotypes Fanconi anemia, complementation group D2, 227646; 227646 Fanconi anemia, complementation group D2; Fanconi Anemia for gene: FANCD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCC | Rebecca Foulger Added phenotypes Fanconi anemia, complementation group C, 227645; 227645 Fanconi anemia, complementation group C; Fanconi Anemia for gene: FANCC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCB | Rebecca Foulger Added phenotypes Fanconi Anemia Type B; Fanconi Anemia, X-Linked; Fanconi Anaemia; 300514 Fanconi anemia, complementation group B; Falcon anemia; Fanconi anemia, complementation group B, 300514 for gene: FANCB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | FANCA | Rebecca Foulger Added phenotypes Fanconi anemia, complementation group A, 227650; Fanconi anemia; 227650 Fanconi anemia complementation group A for gene: FANCA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.24 | ERCC4 |
Rebecca Foulger gene: ERCC4 was added gene: ERCC4 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC4 were set to 24027083; 23623386; 23623389 Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; 615272 Fanconi anemia, complementation group Q |
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Growth failure in early childhood v0.24 | BRIP1 |
Rebecca Foulger gene: BRIP1 was added gene: BRIP1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: BRIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRIP1 were set to 16116423; 16116424; 16153896; 14630800 Phenotypes for gene: BRIP1 were set to Fanconi anemia, complementation group J, 609054; 609054 Fanconi anemia, complementation group J |
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Growth failure in early childhood v0.24 | BRCA2 |
Rebecca Foulger gene: BRCA2 was added gene: BRCA2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: BRCA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BRCA2 were set to 14670928; 28185119; 11239453; 12065746; 24395671 Phenotypes for gene: BRCA2 were set to Fanconi anemia, complementation group D1, 605724; 605724 Fanconi anemia, complementation group D1 |
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Growth failure in early childhood v0.24 | BLM | Rebecca Foulger Added phenotypes Bloom syndrome, 210900; 210900 Bloom syndrome for gene: BLM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | ZFP57 | Rebecca Foulger reviewed gene: ZFP57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | XRCC4 | Rebecca Foulger reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | WRN | Rebecca Foulger reviewed gene: WRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | TBCE | Rebecca Foulger reviewed gene: TBCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | STAT5B | Rebecca Foulger reviewed gene: STAT5B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | SOX3 | Rebecca Foulger reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | SOX2 | Rebecca Foulger reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | SMC3 | Rebecca Foulger reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | SMC1A | Rebecca Foulger reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | SHOX | Rebecca Foulger reviewed gene: SHOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | SAMD9 | Rebecca Foulger reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | RPS6KA3 | Rebecca Foulger reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | RPL10 | Rebecca Foulger reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | ROR2 | Rebecca Foulger reviewed gene: ROR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | RNU4ATAC | Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | RBBP8 | Rebecca Foulger reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | RAD21 | Rebecca Foulger reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | PROP1 | Rebecca Foulger reviewed gene: PROP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | PROKR2 | Rebecca Foulger reviewed gene: PROKR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | POU1F1 | Rebecca Foulger reviewed gene: POU1F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | PNPLA6 | Rebecca Foulger reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | PITX2 | Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | PCNT | Rebecca Foulger reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | PAPPA2 | Rebecca Foulger reviewed gene: PAPPA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | OTX2 | Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | ORC6 | Rebecca Foulger reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | ORC4 | Rebecca Foulger reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | ORC1 | Rebecca Foulger reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | NIPBL | Rebecca Foulger reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | LIG4 | Rebecca Foulger reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | LHX4 | Rebecca Foulger reviewed gene: LHX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | LHX3 | Rebecca Foulger reviewed gene: LHX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | KMT2D | Rebecca Foulger reviewed gene: KMT2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | KDM6A | Rebecca Foulger reviewed gene: KDM6A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | INSR | Rebecca Foulger reviewed gene: INSR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | IGFALS | Rebecca Foulger reviewed gene: IGFALS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | HESX1 | Rebecca Foulger reviewed gene: HESX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | HDAC8 | Rebecca Foulger reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | GLI3 | Rebecca Foulger reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | GLI2 | Rebecca Foulger reviewed gene: GLI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | GHRHR | Rebecca Foulger reviewed gene: GHRHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | GHR | Rebecca Foulger reviewed gene: GHR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | GH1 | Rebecca Foulger reviewed gene: GH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | FGFR1 | Rebecca Foulger reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | FGF8 | Rebecca Foulger reviewed gene: FGF8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | FGD1 | Rebecca Foulger reviewed gene: FGD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | ERCC8 | Rebecca Foulger reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | ERCC6 | Rebecca Foulger reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | EP300 | Rebecca Foulger reviewed gene: EP300: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | DHCR7 | Rebecca Foulger reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | CRIPT | Rebecca Foulger reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | CREBBP | Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | CHD7 | Rebecca Foulger reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | CENPJ | Rebecca Foulger reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | CDT1 | Rebecca Foulger reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.23 | CDC6 | Rebecca Foulger reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.22 | ZFP57 |
Rebecca Foulger Source Expert Review Red was added to ZFP57. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | XRCC4 |
Rebecca Foulger Source Expert Review Red was added to XRCC4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | WRN |
Rebecca Foulger Source Expert Review Red was added to WRN. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | TBCE |
Rebecca Foulger Source Expert Review Red was added to TBCE. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | STAT5B |
Rebecca Foulger Source Expert Review Red was added to STAT5B. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | SOX3 |
Rebecca Foulger Source Expert Review Red was added to SOX3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | SOX2 |
Rebecca Foulger Source Expert Review Red was added to SOX2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | SMC3 |
Rebecca Foulger Source Expert Review Red was added to SMC3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | SMC1A |
Rebecca Foulger Source Expert Review Red was added to SMC1A. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | SHOX |
Rebecca Foulger Source Expert Review Red was added to SHOX. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | SAMD9 |
Rebecca Foulger Source Expert Review Red was added to SAMD9. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | RPS6KA3 |
Rebecca Foulger Source Expert Review Red was added to RPS6KA3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | RPL10 |
Rebecca Foulger Source Expert Review Red was added to RPL10. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | ROR2 |
Rebecca Foulger Source Expert Review Red was added to ROR2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | RNU4ATAC |
Rebecca Foulger Source Expert Review Red was added to RNU4ATAC. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | RBBP8 |
Rebecca Foulger Source Expert Review Red was added to RBBP8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | RAD21 |
Rebecca Foulger Source Expert Review Red was added to RAD21. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | PROP1 |
Rebecca Foulger Source Expert Review Red was added to PROP1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | PROKR2 |
Rebecca Foulger Source Expert Review Red was added to PROKR2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | POU1F1 |
Rebecca Foulger Source Expert Review Red was added to POU1F1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | PNPLA6 |
Rebecca Foulger Source Expert Review Red was added to PNPLA6. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | PITX2 |
Rebecca Foulger Source Expert Review Red was added to PITX2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | PCNT |
Rebecca Foulger Source Expert Review Red was added to PCNT. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | PAPPA2 |
Rebecca Foulger Source Expert Review Red was added to PAPPA2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | OTX2 |
Rebecca Foulger Source Expert Review Red was added to OTX2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | ORC6 |
Rebecca Foulger Source Expert Review Red was added to ORC6. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | ORC4 |
Rebecca Foulger Source Expert Review Red was added to ORC4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | ORC1 |
Rebecca Foulger Source Expert Review Red was added to ORC1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | NIPBL |
Rebecca Foulger Source Expert Review Red was added to NIPBL. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | LIG4 |
Rebecca Foulger Source Expert Review Red was added to LIG4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | LHX4 |
Rebecca Foulger Source Expert Review Red was added to LHX4. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | LHX3 |
Rebecca Foulger Source Expert Review Red was added to LHX3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | KMT2D |
Rebecca Foulger Source Expert Review Red was added to KMT2D. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | KDM6A |
Rebecca Foulger Source Expert Review Red was added to KDM6A. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | INSR |
Rebecca Foulger Source Expert Review Red was added to INSR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | IGFALS |
Rebecca Foulger Source Expert Review Red was added to IGFALS. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | HESX1 |
Rebecca Foulger Source Expert Review Red was added to HESX1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | HDAC8 |
Rebecca Foulger Source Expert Review Red was added to HDAC8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | GLI3 |
Rebecca Foulger Source Expert Review Red was added to GLI3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | GLI2 |
Rebecca Foulger Source Expert Review Red was added to GLI2. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | GHRHR |
Rebecca Foulger Source Expert Review Red was added to GHRHR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | GHR |
Rebecca Foulger Source Expert Review Red was added to GHR. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | GH1 |
Rebecca Foulger Source Expert Review Red was added to GH1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | FGFR1 |
Rebecca Foulger Source Expert Review Red was added to FGFR1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | FGF8 |
Rebecca Foulger Source Expert Review Red was added to FGF8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | FGD1 |
Rebecca Foulger Source Expert Review Red was added to FGD1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | ERCC8 |
Rebecca Foulger Source Expert Review Red was added to ERCC8. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | ERCC6 |
Rebecca Foulger Source Expert Review Red was added to ERCC6. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | EP300 |
Rebecca Foulger Source Expert Review Red was added to EP300. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | DHCR7 |
Rebecca Foulger Source Expert Review Red was added to DHCR7. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | CRIPT |
Rebecca Foulger Source Expert Review Red was added to CRIPT. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | CREBBP |
Rebecca Foulger Source Expert Review Red was added to CREBBP. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | CHD7 |
Rebecca Foulger Source Expert Review Red was added to CHD7. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | CENPJ |
Rebecca Foulger Source Expert Review Red was added to CENPJ. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | CDT1 |
Rebecca Foulger Source Expert Review Red was added to CDT1. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.22 | CDC6 |
Rebecca Foulger Source Expert Review Red was added to CDC6. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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Growth failure in early childhood v0.21 | FGFR3 | Rebecca Foulger reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | PLAG1 | Rebecca Foulger reviewed gene: PLAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | IGF2 | Rebecca Foulger reviewed gene: IGF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | HMGA2 | Rebecca Foulger reviewed gene: HMGA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | ACAN | Rebecca Foulger reviewed gene: ACAN: Rating: AMBER; Mode of pathogenicity: ; Publications: 27870580; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | TRIM37 | Rebecca Foulger reviewed gene: TRIM37: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | SRCAP | Rebecca Foulger reviewed gene: SRCAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | PIK3R1 | Rebecca Foulger reviewed gene: PIK3R1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | OBSL1 | Rebecca Foulger reviewed gene: OBSL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | NBN | Rebecca Foulger reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | IGF1R | Rebecca Foulger reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | IGF1 | Rebecca Foulger reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | CUL7 | Rebecca Foulger reviewed gene: CUL7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | CDKN1C | Rebecca Foulger reviewed gene: CDKN1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | CCDC8 | Rebecca Foulger reviewed gene: CCDC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | BLM | Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.21 | ANKRD11 | Rebecca Foulger reviewed gene: ANKRD11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.20 | FGFR3 |
Rebecca Foulger gene: FGFR3 was added gene: FGFR3 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FGFR3 were set to Hypochondroplasia, 146000 |
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Growth failure in early childhood v0.20 | PLAG1 |
Rebecca Foulger Source Expert Review Green was added to PLAG1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v0.20 | IGF2 |
Rebecca Foulger Source Expert Review Green was added to IGF2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v0.20 | HMGA2 |
Rebecca Foulger Source Expert Review Green was added to HMGA2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v0.20 | ACAN |
Rebecca Foulger Source Expert Review Green was added to ACAN. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Growth failure in early childhood v0.19 | HMGA2 | Ivone Leong Mode of inheritance for gene: HMGA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.18 | ACAN | Ivone Leong Publications for gene: ACAN were set to 24762113 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | PLAG1 | Anna de Burca reviewed gene: PLAG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28796236; Phenotypes: Silver-Russell syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | HMGA2 | Anna de Burca reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29655892; Phenotypes: Silver-Russell syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | TRIM37 | Ivone Leong reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mulibrey nanism; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | SRCAP | Ivone Leong reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Floating Harbor; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | PLAG1 | Ivone Leong reviewed gene: PLAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | PIK3R1 | Ivone Leong reviewed gene: PIK3R1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SHORT; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | PCNT | Ivone Leong reviewed gene: PCNT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: MOPDII; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | ORC6 | Ivone Leong reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | ORC4 | Ivone Leong reviewed gene: ORC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | ORC1 | Ivone Leong reviewed gene: ORC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | OBSL1 | Ivone Leong reviewed gene: OBSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | NBN | Ivone Leong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Nijmegen; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | IGF2 | Ivone Leong reviewed gene: IGF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | IGF1R | Ivone Leong reviewed gene: IGF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 15q-Del; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | IGF1 | Ivone Leong reviewed gene: IGF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: IGF1; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | HRAS | Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Costello; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | HMGA2 | Ivone Leong reviewed gene: HMGA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | CUL7 | Ivone Leong reviewed gene: CUL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | COL1A1 | Ivone Leong reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: OI; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | CDT1 | Ivone Leong reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | CDKN1C | Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SRS/BWS; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | CDC6 | Ivone Leong reviewed gene: CDC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Meier-Gorlin; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | CCDC8 | Ivone Leong reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3M; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | BLM | Ivone Leong reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bloom; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | ANKRD11 | Ivone Leong reviewed gene: ANKRD11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: KBG; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.17 | ACAN | Ivone Leong reviewed gene: ACAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.16 | TRIM37 |
Ivone Leong Source Expert list was added to TRIM37. Added phenotypes Mulibrey nanism for gene: TRIM37 |
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Growth failure in early childhood v0.16 | SRCAP |
Ivone Leong Source Expert list was added to SRCAP. Added phenotypes Floating Harbor for gene: SRCAP |
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Growth failure in early childhood v0.16 | PLAG1 |
Ivone Leong gene: PLAG1 was added gene: PLAG1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: PLAG1 was set to Phenotypes for gene: PLAG1 were set to SRS |
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Growth failure in early childhood v0.16 | PIK3R1 |
Ivone Leong Source Expert list was added to PIK3R1. Added phenotypes SHORT for gene: PIK3R1 |
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Growth failure in early childhood v0.16 | PCNT |
Ivone Leong Source Expert list was added to PCNT. Added phenotypes MOPDII for gene: PCNT |
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Growth failure in early childhood v0.16 | ORC6 |
Ivone Leong Source Expert list was added to ORC6. Added phenotypes Meier-Gorlin for gene: ORC6 |
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Growth failure in early childhood v0.16 | ORC4 |
Ivone Leong Source Expert list was added to ORC4. Added phenotypes Meier-Gorlin for gene: ORC4 |
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Growth failure in early childhood v0.16 | ORC1 |
Ivone Leong Source Expert list was added to ORC1. Added phenotypes Meier-Gorlin for gene: ORC1 |
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Growth failure in early childhood v0.16 | OBSL1 |
Ivone Leong Source Expert list was added to OBSL1. Added phenotypes 3M for gene: OBSL1 |
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Growth failure in early childhood v0.16 | NBN |
Ivone Leong Source Expert list was added to NBN. Added phenotypes Nijmegen for gene: NBN |
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Growth failure in early childhood v0.16 | IGF2 |
Ivone Leong Source Expert list was added to IGF2. Added phenotypes SRS for gene: IGF2 |
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Growth failure in early childhood v0.16 | IGF1R |
Ivone Leong Source Expert list was added to IGF1R. Added phenotypes 15q-Del for gene: IGF1R |
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Growth failure in early childhood v0.16 | IGF1 |
Ivone Leong Source Expert list was added to IGF1. Added phenotypes IGF1 for gene: IGF1 |
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Growth failure in early childhood v0.16 | HRAS |
Ivone Leong Source Expert list was added to HRAS. Added phenotypes Costello for gene: HRAS |
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Growth failure in early childhood v0.16 | HMGA2 |
Ivone Leong gene: HMGA2 was added gene: HMGA2 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: HMGA2 was set to Phenotypes for gene: HMGA2 were set to SRS |
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Growth failure in early childhood v0.16 | CUL7 |
Ivone Leong Source Expert list was added to CUL7. Added phenotypes 3M for gene: CUL7 |
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Growth failure in early childhood v0.16 | COL1A1 |
Ivone Leong gene: COL1A1 was added gene: COL1A1 was added to Growth failure in early childhood. Sources: Expert list Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: COL1A1 were set to OI; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type III, 259420; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type IV, 166220 |
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Growth failure in early childhood v0.16 | CDT1 |
Ivone Leong Source Expert list was added to CDT1. Added phenotypes Meier-Gorlin for gene: CDT1 |
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Growth failure in early childhood v0.16 | CDKN1C |
Ivone Leong Source Expert list was added to CDKN1C. Added phenotypes SRS/BWS; Beckwith-Wiedemann syndrome, 130650 for gene: CDKN1C |
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Growth failure in early childhood v0.16 | CDC6 |
Ivone Leong Source Expert list was added to CDC6. Added phenotypes ?Meier-Gorlin syndrome 5, 613805 for gene: CDC6 |
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Growth failure in early childhood v0.16 | CCDC8 |
Ivone Leong Source Expert list was added to CCDC8. Added phenotypes 3M for gene: CCDC8 |
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Growth failure in early childhood v0.16 | BLM |
Ivone Leong Source Expert list was added to BLM. Added phenotypes Bloom for gene: BLM |
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Growth failure in early childhood v0.16 | ANKRD11 |
Ivone Leong Source Expert list was added to ANKRD11. Added phenotypes KBG for gene: ANKRD11 |
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Growth failure in early childhood v0.16 | ACAN |
Ivone Leong Source Expert list was added to ACAN. Mode of inheritance for gene ACAN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (AD), 165800; Spondyloepimetaphyseal dysplasia, aggrecan type (AR), 612813; ?Spondyloepiphyseal dysplasia, Kimberley type (AD), 608361 for gene: ACAN |
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Growth failure in early childhood v0.15 | TRIM37 | Ivone Leong Phenotypes for gene: TRIM37 were changed from Mulibery Nanism to Mulibery Nanism, 253250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.14 | PIK3R1 | Ivone Leong Phenotypes for gene: PIK3R1 were changed from SHORT syndrome to SHORT syndrome, 269880 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.13 | PCNT | Ivone Leong Publications for gene: PCNT were set to 18157127, 18174396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.12 | PCNT | Ivone Leong Phenotypes for gene: PCNT were changed from Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance, 210720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.11 | ORC6 | Ivone Leong Phenotypes for gene: ORC6 were changed from micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin syndrome 3, 613803 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.10 | ORC4 | Ivone Leong Phenotypes for gene: ORC4 were changed from micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia to micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia; Meier-Gorlin syndrome 2, 613800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.9 | ORC1 | Ivone Leong Phenotypes for gene: ORC1 were changed from microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia to microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia; Meier-Gorlin syndrome 1, 224690 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.8 | NBN | Ivone Leong Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome to Nijmegen breakage syndrome, 251260 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.7 | IGF2 | Ivone Leong Phenotypes for gene: IGF2 were changed from Silver-Russell phenptype; IUGR; Pre- and post-natal growth failure to Silver-Russell phenptype; IUGR; Pre- and post-natal growth failure; ?Growth restriction, severe, with distinctive facies, 616489 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.6 | HRAS | Ivone Leong Phenotypes for gene: HRAS were changed from Costello syndrome to Costello syndrome, 218040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.5 | CDT1 | Ivone Leong Phenotypes for gene: CDT1 were changed from micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia to micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia; Meier-Gorlin syndrome 4, 613804 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.4 | ANKRD11 | Ivone Leong Phenotypes for gene: ANKRD11 were changed from 148050; KBG syndrome to KBG syndrome, 148050 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.2 | IGF2 | Ellen McDonagh Tag watchlist tag was added to gene: IGF2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.2 | SAMD9 | Ellen McDonagh Tag missense tag was added to gene: SAMD9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.2 | RNU4ATAC | Ellen McDonagh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.2 | H19 | Ellen McDonagh Tag locus-type-rna-long-non-coding tag was added to gene: H19. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Growth failure in early childhood v0.1 | THRB |
Ellen McDonagh gene: THRB was added gene: THRB was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: THRB was set to Unknown |
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Growth failure in early childhood v0.1 | SMARCAL1 |
Ellen McDonagh gene: SMARCAL1 was added gene: SMARCAL1 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: SMARCAL1 was set to Unknown |
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Growth failure in early childhood v0.1 | SHOX2 |
Ellen McDonagh gene: SHOX2 was added gene: SHOX2 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: SHOX2 was set to Unknown |
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Growth failure in early childhood v0.1 | EPHX1 |
Ellen McDonagh gene: EPHX1 was added gene: EPHX1 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: EPHX1 was set to Unknown Phenotypes for gene: EPHX1 were set to ?Fetal hydantoin syndromeDiphenylhydantoin toxicityHypercholanemia, familial, 607748{Preeclampsia, susceptibility to}, 189800 |
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Growth failure in early childhood v0.1 | DOK7 |
Ellen McDonagh gene: DOK7 was added gene: DOK7 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: DOK7 was set to Unknown Phenotypes for gene: DOK7 were set to Myasthenia, limb-girdle, familial, 254300Fetal akinesia deformation sequence, 208150 |
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Growth failure in early childhood v0.1 | BTK |
Ellen McDonagh gene: BTK was added gene: BTK was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: BTK was set to Unknown |
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Growth failure in early childhood v0.1 | ATRX |
Ellen McDonagh gene: ATRX was added gene: ATRX was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: ATRX was set to Unknown Phenotypes for gene: ATRX were set to SGA, which is sometimes called intrauterine growth restriction (IUGR), |
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Growth failure in early childhood v0.1 | IGFBP3 |
Ellen McDonagh gene: IGFBP3 was added gene: IGFBP3 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: IGFBP3 was set to Unknown Publications for gene: IGFBP3 were set to 10364674 Phenotypes for gene: IGFBP3 were set to Silver Russell Syndrome |
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Growth failure in early childhood v0.1 | IGFBP1 |
Ellen McDonagh gene: IGFBP1 was added gene: IGFBP1 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: IGFBP1 was set to Unknown Publications for gene: IGFBP1 were set to 10364674 Phenotypes for gene: IGFBP1 were set to Silver-Russell Syndrome |
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Growth failure in early childhood v0.1 | H19 |
Ellen McDonagh gene: H19 was added gene: H19 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: H19 was set to Other - please specifiy in evaluation comments Phenotypes for gene: H19 were set to Russell-Silver syndrome |
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Growth failure in early childhood v0.1 | ACAN |
Ellen McDonagh gene: ACAN was added gene: ACAN was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: ACAN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACAN were set to 24762113 Phenotypes for gene: ACAN were set to short stature, accelerated bone maturation, Spondyloepiphyseal dysplasia, early onset osteoarthritis |
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Growth failure in early childhood v0.1 | IGF2 |
Ellen McDonagh gene: IGF2 was added gene: IGF2 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: IGF2 was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: IGF2 were set to 26154720 Phenotypes for gene: IGF2 were set to Silver-Russell phenptype; IUGR; Pre- and post-natal growth failure |
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Growth failure in early childhood v0.1 | GHSR |
Ellen McDonagh gene: GHSR was added gene: GHSR was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GHSR were set to 16511605 Phenotypes for gene: GHSR were set to Idiopathic short stature, GH deficiency |
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Growth failure in early childhood v0.1 | RNPC3 |
Ellen McDonagh gene: RNPC3 was added gene: RNPC3 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: RNPC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNPC3 were set to 24480542 Phenotypes for gene: RNPC3 were set to isolated growth hormone deficiency |
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Growth failure in early childhood v0.1 | RAPSN |
Ellen McDonagh gene: RAPSN was added gene: RAPSN was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAPSN were set to Fetal Akinesia Deformation Sequence; Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency, 608931Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptordeficiency, 608931Fetal akinesia deformation sequence, 208150 |
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Growth failure in early childhood v0.1 | MCM5 |
Ellen McDonagh gene: MCM5 was added gene: MCM5 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: MCM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCM5 were set to 28198391 Phenotypes for gene: MCM5 were set to ?Meier-Gorlin syndrome 8 |
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Growth failure in early childhood v0.1 | LIG1 |
Ellen McDonagh gene: LIG1 was added gene: LIG1 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG1 were set to 1581963, 1351188 Phenotypes for gene: LIG1 were set to immunodeficiency, sun sensitivity, growth reatrdation |
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Growth failure in early childhood v0.1 | IFT172 |
Ellen McDonagh gene: IFT172 was added gene: IFT172 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT172 were set to 25664603 Phenotypes for gene: IFT172 were set to GH deficiency, retinopathy, metaphyseal dysplasia |
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Growth failure in early childhood v0.1 | GPR161 |
Ellen McDonagh gene: GPR161 was added gene: GPR161 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: GPR161 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPR161 were set to 25322266 Phenotypes for gene: GPR161 were set to Short stature with hypopituitarism, intellectual disability, sparse or absent hair in the frontal area, hypotelorism, broad nasal root, thick alae nasi, nail hypoplasia, short fifth finger, 2-3 toe syndactyl. MRI showed hypoplastic pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pituitary stalk |
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Growth failure in early childhood v0.1 | FANCM |
Ellen McDonagh gene: FANCM was added gene: FANCM was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: FANCM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCM were set to 16116422; 19423727; 25078778 Phenotypes for gene: FANCM were set to Fanconi anemia, complementation group M, 614087; Fanconi Anemia; Fanconi anemia |
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Growth failure in early childhood v0.1 | DNA2 |
Ellen McDonagh gene: DNA2 was added gene: DNA2 was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: DNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNA2 were set to PMC3912419 Phenotypes for gene: DNA2 were set to seckel syndrome |
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Growth failure in early childhood v0.1 | ATRIP |
Ellen McDonagh gene: ATRIP was added gene: ATRIP was added to Growth failure in early childhood. Sources: Expert Review Red Mode of inheritance for gene: ATRIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATRIP were set to 23144622 Phenotypes for gene: ATRIP were set to microcephaly, micrognathia, small ear lobes, dental crowding |
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Growth failure in early childhood v0.1 | SOX3 |
Ellen McDonagh gene: SOX3 was added gene: SOX3 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SOX3 were set to 15800844 Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, 312000; Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 Mode of pathogenicity for gene: SOX3 was set to Other - please provide details in the comments |
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Growth failure in early childhood v0.1 | SMC1A |
Ellen McDonagh gene: SMC1A was added gene: SMC1A was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to Cornelia De Lange |
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Growth failure in early childhood v0.1 | RPS6KA3 |
Ellen McDonagh gene: RPS6KA3 was added gene: RPS6KA3 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: RPS6KA3 were set to Coffin Lowry |
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Growth failure in early childhood v0.1 | KDM6A |
Ellen McDonagh gene: KDM6A was added gene: KDM6A was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: KDM6A were set to Kabuki |
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Growth failure in early childhood v0.1 | HDAC8 |
Ellen McDonagh gene: HDAC8 was added gene: HDAC8 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HDAC8 were set to Cornelia De Lange |
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Growth failure in early childhood v0.1 | FANCB |
Ellen McDonagh gene: FANCB was added gene: FANCB was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; VACTERL Association with Hydrocephalus; Fanconi anemia |
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Growth failure in early childhood v0.1 | RPL10 |
Ellen McDonagh gene: RPL10 was added gene: RPL10 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: RPL10 were set to 25316788 Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 |
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Growth failure in early childhood v0.1 | FGD1 |
Ellen McDonagh gene: FGD1 was added gene: FGD1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to Aarskog |
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Growth failure in early childhood v0.1 | CDKN1C |
Ellen McDonagh gene: CDKN1C was added gene: CDKN1C was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: CDKN1C were set to Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies |
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Growth failure in early childhood v0.1 | SRCAP |
Ellen McDonagh gene: SRCAP was added gene: SRCAP was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome, 136140 |
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Growth failure in early childhood v0.1 | SOX2 |
Ellen McDonagh gene: SOX2 was added gene: SOX2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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Growth failure in early childhood v0.1 | SOS1 |
Ellen McDonagh gene: SOS1 was added gene: SOS1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SOS1 were set to Rasopathy |
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Growth failure in early childhood v0.1 | SMC3 |
Ellen McDonagh gene: SMC3 was added gene: SMC3 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SMC3 were set to Cornelia De Lange |
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Growth failure in early childhood v0.1 | SHOC2 |
Ellen McDonagh gene: SHOC2 was added gene: SHOC2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHOC2 were set to Noonan with loss of anagen hair Mode of pathogenicity for gene: SHOC2 was set to Other - please provide details in the comments |
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Growth failure in early childhood v0.1 | RIT1 |
Ellen McDonagh gene: RIT1 was added gene: RIT1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RIT1 were set to Rasopathy |
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Growth failure in early childhood v0.1 | RAF1 |
Ellen McDonagh gene: RAF1 was added gene: RAF1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAF1 were set to Rasopathy |
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Growth failure in early childhood v0.1 | RAD21 |
Ellen McDonagh gene: RAD21 was added gene: RAD21 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAD21 were set to Cornelia De Lange |
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Growth failure in early childhood v0.1 | PTPN11 |
Ellen McDonagh gene: PTPN11 was added gene: PTPN11 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments |
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Growth failure in early childhood v0.1 | PITX2 |
Ellen McDonagh gene: PITX2 was added gene: PITX2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PITX2 were set to AXENFELD-RIEGER SYNDROME |
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Growth failure in early childhood v0.1 | PIK3R1 |
Ellen McDonagh gene: PIK3R1 was added gene: PIK3R1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PIK3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3R1 were set to SHORT syndrome |
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Growth failure in early childhood v0.1 | OTX2 |
Ellen McDonagh gene: OTX2 was added gene: OTX2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OTX2 were set to 18728160 Phenotypes for gene: OTX2 were set to Microcephaly, bilateral anopthalmia, developmental delay, cleft palate |
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Growth failure in early childhood v0.1 | NRAS |
Ellen McDonagh gene: NRAS was added gene: NRAS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NRAS were set to Nat Genet. 42: 27-29, 2010 Phenotypes for gene: NRAS were set to A restricted spectrum of NRAS mutations causes Noonan syndrome. (Nat Genet. 42: 27-29, 2010.) Mode of pathogenicity for gene: NRAS was set to Other - please provide details in the comments |
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Growth failure in early childhood v0.1 | NIPBL |
Ellen McDonagh gene: NIPBL was added gene: NIPBL was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NIPBL were set to Cornelia De Lange |
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Growth failure in early childhood v0.1 | MAP2K2 |
Ellen McDonagh gene: MAP2K2 was added gene: MAP2K2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K2 were set to 16439621 Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome |
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Growth failure in early childhood v0.1 | MAP2K1 |
Ellen McDonagh gene: MAP2K1 was added gene: MAP2K1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 16825433, 16439621 Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome |
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Growth failure in early childhood v0.1 | LHX4 |
Ellen McDonagh gene: LHX4 was added gene: LHX4 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LHX4 were set to 11567216, 18073311 Phenotypes for gene: LHX4 were set to hypopituitarism |
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Growth failure in early childhood v0.1 | KRAS |
Ellen McDonagh gene: KRAS was added gene: KRAS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KRAS were set to Rasopathy |
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Growth failure in early childhood v0.1 | KMT2D |
Ellen McDonagh gene: KMT2D was added gene: KMT2D was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: KMT2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KMT2D were set to Kabuki |
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Growth failure in early childhood v0.1 | HRAS |
Ellen McDonagh gene: HRAS was added gene: HRAS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to 16170316 Phenotypes for gene: HRAS were set to Costello syndrome |
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Growth failure in early childhood v0.1 | GLI3 |
Ellen McDonagh gene: GLI3 was added gene: GLI3 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI3 were set to 9054938 Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome |
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Growth failure in early childhood v0.1 | GLI2 |
Ellen McDonagh gene: GLI2 was added gene: GLI2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GLI2 were set to Holoprosencephaly, hypopituitarism |
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Growth failure in early childhood v0.1 | FGFR1 |
Ellen McDonagh gene: FGFR1 was added gene: FGFR1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR1 were set to 22319038 |
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Growth failure in early childhood v0.1 | FGF8 |
Ellen McDonagh gene: FGF8 was added gene: FGF8 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGF8 were set to 22319038 Phenotypes for gene: FGF8 were set to hypopituitarism, absent corpus callosum, Holoprosencephaly, Moebius syndrome, craniofacial defects, high arched palate, maxillary hypoplasia, microcepahly, spastic diplegia |
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Growth failure in early childhood v0.1 | EP300 |
Ellen McDonagh gene: EP300 was added gene: EP300 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EP300 were set to Rubenstein Taybi |
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Growth failure in early childhood v0.1 | CREBBP |
Ellen McDonagh gene: CREBBP was added gene: CREBBP was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CREBBP were set to Rubenstein Taybi |
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Growth failure in early childhood v0.1 | CHD7 |
Ellen McDonagh gene: CHD7 was added gene: CHD7 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD7 were set to 16400610 Phenotypes for gene: CHD7 were set to CHARGE syndrome - ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation; CHARGE syndrome, 214800 |
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Growth failure in early childhood v0.1 | CBL |
Ellen McDonagh gene: CBL was added gene: CBL was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CBL were set to NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MEYLOMONOCYTIC LEUKEMIA Mode of pathogenicity for gene: CBL was set to Other - please provide details in the comments |
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Growth failure in early childhood v0.1 | BRAF |
Ellen McDonagh gene: BRAF was added gene: BRAF was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BRAF were set to 16825433, 16474404 Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome |
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Growth failure in early childhood v0.1 | ANKRD11 |
Ellen McDonagh gene: ANKRD11 was added gene: ANKRD11 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD11 were set to 21782149 Phenotypes for gene: ANKRD11 were set to 148050; KBG syndrome |
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Growth failure in early childhood v0.1 | SAMD9 |
Ellen McDonagh gene: SAMD9 was added gene: SAMD9 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SAMD9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SAMD9 were set to 27182967 Phenotypes for gene: SAMD9 were set to MIRAGE syndrome, 617053 Mode of pathogenicity for gene: SAMD9 was set to Other - please provide details in the comments |
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Growth failure in early childhood v0.1 | SHOX |
Ellen McDonagh gene: SHOX was added gene: SHOX was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SHOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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Growth failure in early childhood v0.1 | PROKR2 |
Ellen McDonagh gene: PROKR2 was added gene: PROKR2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PROKR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PROKR2 were set to 22319038 Phenotypes for gene: PROKR2 were set to hypopituitarism, Hypoplastic corpus callosum, normal or small anterior pituitary, Club foot, syrinx spinal cord, microcephaly, epilepsy |
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Growth failure in early childhood v0.1 | POU1F1 |
Ellen McDonagh gene: POU1F1 was added gene: POU1F1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: POU1F1 were set to GH, PRL deficiencies; variable degree of TSH deficiency |
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Growth failure in early childhood v0.1 | IGF1R |
Ellen McDonagh gene: IGF1R was added gene: IGF1R was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: IGF1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: IGF1R were set to Insulin likegrowthfactorI,resistanceto,270450; Insulin-Like Growth Factor I Resistance |
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Growth failure in early childhood v0.1 | HESX1 |
Ellen McDonagh gene: HESX1 was added gene: HESX1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HESX1 were set to Septo-optic dysplasia; variable involvement of pituitary hormones |
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Growth failure in early childhood v0.1 | GH1 |
Ellen McDonagh gene: GH1 was added gene: GH1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GH1 were set to Growth hormone deficiency |
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Growth failure in early childhood v0.1 | ZFP57 |
Ellen McDonagh gene: ZFP57 was added gene: ZFP57 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ZFP57 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZFP57 were set to PMID: 18622393 Phenotypes for gene: ZFP57 were set to Phenotypes consistent with hypomethylation at multiple imprinted loci |
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Growth failure in early childhood v0.1 | XRCC4 |
Ellen McDonagh gene: XRCC4 was added gene: XRCC4 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: XRCC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC4 were set to 25728776 Phenotypes for gene: XRCC4 were set to short stature, microcephaly, hypothyroidism, diabetes mellitus, progressive ataxia, hypergonadotrophic hypogonadism |
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Growth failure in early childhood v0.1 | WRN |
Ellen McDonagh gene: WRN was added gene: WRN was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WRN were set to Werner syndrome |
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Growth failure in early childhood v0.1 | TRIM37 |
Ellen McDonagh gene: TRIM37 was added gene: TRIM37 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRIM37 were set to Mulibery Nanism |
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Growth failure in early childhood v0.1 | TBCE |
Ellen McDonagh gene: TBCE was added gene: TBCE was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal |
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Growth failure in early childhood v0.1 | STAT5B |
Ellen McDonagh gene: STAT5B was added gene: STAT5B was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal |
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Growth failure in early childhood v0.1 | ROR2 |
Ellen McDonagh gene: ROR2 was added gene: ROR2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ROR2 were set to Robinow |
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Growth failure in early childhood v0.1 | RNU4ATAC |
Ellen McDonagh gene: RNU4ATAC was added gene: RNU4ATAC was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU4ATAC were set to 21474760 Phenotypes for gene: RNU4ATAC were set to MOPD I |
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Growth failure in early childhood v0.1 | RBBP8 |
Ellen McDonagh gene: RBBP8 was added gene: RBBP8 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBBP8 were set to 24389050, 21998596 Phenotypes for gene: RBBP8 were set to seckel syndrome but with proportionate head/height impairment, cafe au lair macules |
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Growth failure in early childhood v0.1 | PROP1 |
Ellen McDonagh gene: PROP1 was added gene: PROP1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined |
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Growth failure in early childhood v0.1 | PNPLA6 |
Ellen McDonagh gene: PNPLA6 was added gene: PNPLA6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 25480986 Phenotypes for gene: PNPLA6 were set to Oliver-Mcfarlane syndrome, Trichomegaly, GH deficiency, retinal dystrophy, hypogonadotrophic hypogonadism |
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Growth failure in early childhood v0.1 | PCNT |
Ellen McDonagh gene: PCNT was added gene: PCNT was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCNT were set to 18157127, 18174396 Phenotypes for gene: PCNT were set to Seckel syndrome, MOPD type II - growth restrction, microcephaly, prominent nose, micrognathia, squeaky voice, insulin resistance |
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Growth failure in early childhood v0.1 | PAPPA2 |
Ellen McDonagh gene: PAPPA2 was added gene: PAPPA2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PAPPA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAPPA2 were set to 26902202 Phenotypes for gene: PAPPA2 were set to Proportionate Short Stature, High Circulating IGF-I, IGFBP-3, and ALS, Mild Microcephaly, thin Long Bones and Decreased Bone Mineral Density |
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Growth failure in early childhood v0.1 | ORC6 |
Ellen McDonagh gene: ORC6 was added gene: ORC6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC6 were set to 21358632 Phenotypes for gene: ORC6 were set to micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia |
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Growth failure in early childhood v0.1 | ORC4 |
Ellen McDonagh gene: ORC4 was added gene: ORC4 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ORC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC4 were set to 21358632 Phenotypes for gene: ORC4 were set to micrognathia, patellar aplasia/hypoplasia, microtia, mammary hypoplasia |
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Growth failure in early childhood v0.1 | ORC1 |
Ellen McDonagh gene: ORC1 was added gene: ORC1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ORC1 were set to 21358632 Phenotypes for gene: ORC1 were set to microtia, beaked nose, patellar aplasia/hypoplasia, mammary hypoplasia, micrognathia |
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Growth failure in early childhood v0.1 | OBSL1 |
Ellen McDonagh gene: OBSL1 was added gene: OBSL1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OBSL1 were set to 21737058 Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 |
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Growth failure in early childhood v0.1 | NBN |
Ellen McDonagh gene: NBN was added gene: NBN was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NBN were set to Nijmegen breakage syndrome |
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Growth failure in early childhood v0.1 | LIG4 |
Ellen McDonagh gene: LIG4 was added gene: LIG4 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG4 were set to 11779494, 16088910, Phenotypes for gene: LIG4 were set to microcephaly, growth retardation, immunodeficiency, developmental delay |
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Growth failure in early childhood v0.1 | LHX3 |
Ellen McDonagh gene: LHX3 was added gene: LHX3 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LHX3 were set to GH, TSH, LH, FSH, PRL deficiencies |
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Growth failure in early childhood v0.1 | INSR |
Ellen McDonagh gene: INSR was added gene: INSR was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Leprechaunism |
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Growth failure in early childhood v0.1 | IGFALS |
Ellen McDonagh gene: IGFALS was added gene: IGFALS was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: IGFALS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IGFALS were set to 14762184 Phenotypes for gene: IGFALS were set to Short stature; delayed puberty; very low IGF-I levels |
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Growth failure in early childhood v0.1 | IGF1 |
Ellen McDonagh gene: IGF1 was added gene: IGF1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to Insulin-Like Growth Factor I Deficiency; Growth retardation with deafness and mental retardation due to IGF1 deficiency, 608747 |
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Growth failure in early childhood v0.1 | GHRHR |
Ellen McDonagh gene: GHRHR was added gene: GHRHR was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHRHR were set to Growth hormone deficiency |
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Growth failure in early childhood v0.1 | GHR |
Ellen McDonagh gene: GHR was added gene: GHR was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GHR were set to Laron syndrome |
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Growth failure in early childhood v0.1 | FANCL |
Ellen McDonagh gene: FANCL was added gene: FANCL was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083; Fanconi Anemia; Fanconi anemia |
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Growth failure in early childhood v0.1 | FANCI |
Ellen McDonagh gene: FANCI was added gene: FANCI was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053; Fanconi Anemia; Fanconi anemia |
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Growth failure in early childhood v0.1 | FANCG |
Ellen McDonagh gene: FANCG was added gene: FANCG was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCG were set to 16493006 Phenotypes for gene: FANCG were set to cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); pre- and postnatal growth retardation; Fanconi anemia; hearing loss; Fanconi anemia, complementation group G, 614082; a typical facial appearance with small head, eyes, and mouth; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; Fanconi anemia complementation group G; bone marrow failure; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); hypogonadism and reduced fertility |
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Growth failure in early childhood v0.1 | FANCF |
Ellen McDonagh gene: FANCF was added gene: FANCF was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467; Fanconi Anemia; Fanconi anemia |
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Growth failure in early childhood v0.1 | FANCE |
Ellen McDonagh gene: FANCE was added gene: FANCE was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901; Fanconi Anemia; Fanconi anemia |
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Growth failure in early childhood v0.1 | FANCD2 |
Ellen McDonagh gene: FANCD2 was added gene: FANCD2 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646; Fanconi Anemia; Fanconi anemia |
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Growth failure in early childhood v0.1 | FANCC |
Ellen McDonagh gene: FANCC was added gene: FANCC was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCC were set to 16493006 Phenotypes for gene: FANCC were set to cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); pre- and postnatal growth retardation; Fanconi anemia; hearing loss; a typical facial appearance with small head, eyes, and mouth; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; Fanconi anemia, complementation group C, 227645; bone marrow failure; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); hypogonadism and reduced fertility |
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Growth failure in early childhood v0.1 | FANCA |
Ellen McDonagh gene: FANCA was added gene: FANCA was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FANCA were set to 16493006 Phenotypes for gene: FANCA were set to cutaneous abnormalities (hyper- or hypopigmentation and cafe-au-lait spots); pre- and postnatal growth retardation; Fanconi anemia; hearing loss; a typical facial appearance with small head, eyes, and mouth; and susceptibility to cancer, predominantly acute myeloid leukemia.; Fanconi Anemia; Fanconi anemia, complementation group A, 227650; bone marrow failure; malformations of the kidneys, heart, and skeleton (absent or abnormal thumbs and radii); hypogonadism and reduced fertility |
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Growth failure in early childhood v0.1 | ERCC8 |
Ellen McDonagh gene: ERCC8 was added gene: ERCC8 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC8 were set to cockayne |
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Growth failure in early childhood v0.1 | ERCC6 |
Ellen McDonagh gene: ERCC6 was added gene: ERCC6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 |
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Growth failure in early childhood v0.1 | DHCR7 |
Ellen McDonagh gene: DHCR7 was added gene: DHCR7 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith Lemli Opitz |
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Growth failure in early childhood v0.1 | CUL7 |
Ellen McDonagh gene: CUL7 was added gene: CUL7 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CUL7 were set to 3-M syndrome 1, 273750 |
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Growth failure in early childhood v0.1 | CRIPT |
Ellen McDonagh gene: CRIPT was added gene: CRIPT was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRIPT were set to PMC3912419 Phenotypes for gene: CRIPT were set to frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis (staring look), upturned nostrils, and hypoplastic terminal phalanges with brachydactyly |
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Growth failure in early childhood v0.1 | CENPJ |
Ellen McDonagh gene: CENPJ was added gene: CENPJ was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPJ were set to 20522431 Phenotypes for gene: CENPJ were set to seckel syndrome |
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Growth failure in early childhood v0.1 | CDT1 |
Ellen McDonagh gene: CDT1 was added gene: CDT1 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDT1 were set to 21358632 Phenotypes for gene: CDT1 were set to micrognathia, microtia, patellar hypoplasia/aplasia, mammary hypoplasia |
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Growth failure in early childhood v0.1 | CDC6 |
Ellen McDonagh gene: CDC6 was added gene: CDC6 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CDC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDC6 were set to 21358632 Phenotypes for gene: CDC6 were set to patellar hypoplasia/aplasia, microtia, meier-gorlin syndrome, mammary hypoplasia |
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Growth failure in early childhood v0.1 | CCDC8 |
Ellen McDonagh gene: CCDC8 was added gene: CCDC8 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC8 were set to 21737058 Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205 |
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Growth failure in early childhood v0.1 | BLM |
Ellen McDonagh gene: BLM was added gene: BLM was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BLM were set to Bloom syndrome, 210900 |
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Growth failure in early childhood v0.1 | ISCA-37429-Loss |
Ellen McDonagh Region: ISCA-37429-Loss was added Region: ISCA-37429-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37429-Loss were set to 20026556; 14630905 Phenotypes for Region: ISCA-37429-Loss were set to 194190; Wolf-Hirschhorn syndrome |
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Growth failure in early childhood v0.1 | ISCA-37420-Loss |
Ellen McDonagh Region: ISCA-37420-Loss was added Region: ISCA-37420-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37420-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37420-Loss were set to 25217958; 18628315 Phenotypes for Region: ISCA-37420-Loss were set to PMID: 18628315 developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour, other clinically important features include epilepsy, heart defects and kidney/urologic anomalies; Koolen-De Vries syndrome 610443; 610443; PMID: 25217958 |
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Growth failure in early childhood v0.1 | ISCA-37406-Loss |
Ellen McDonagh Region: ISCA-37406-Loss was added Region: ISCA-37406-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37406-Loss were set to 16783566; 10573006 Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543 |
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Growth failure in early childhood v0.1 | ISCA-37397-Loss |
Ellen McDonagh Region: ISCA-37397-Loss was added Region: ISCA-37397-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37397-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37397-Loss were set to 18179902; 23765049; 21671380 Phenotypes for Region: ISCA-37397-Loss were set to uterine didelphys; language delay; Hyptonia; prematurity; clinodactyly; ADHD; Goldenhar syndrome; developmental delay; 611867; diaphragmatic hernia; DiGeorge syndrome (DGS); velocardiofacial syndrome; mild skeletal abnormalities; Seizures; global developmental delay; prenatal and postnatal growth delay; micropephaly; cardiovascular defects |
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Growth failure in early childhood v0.1 | ISCA-37392-Loss |
Ellen McDonagh Region: ISCA-37392-Loss was added Region: ISCA-37392-Loss was added to Growth failure in early childhood. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37392-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37392-Loss were set to 20301427 Phenotypes for Region: ISCA-37392-Loss were set to 194050; Williams syndrome |
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Growth failure in early childhood v0.0 |
Ellen McDonagh Added Panel Growth failure in early childhood Set panel types to: GMS Rare Disease Virtual |