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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
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.
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.
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
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
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
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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)
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)
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)
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)
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)
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)
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
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)
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)
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.
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.
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
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
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
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
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.
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.
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.
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
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
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.
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.
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.
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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.
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.
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.
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.
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
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.
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
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
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.
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
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.
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
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
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
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
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.
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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.
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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)
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
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
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
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
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
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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)
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
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)
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)
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)
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)
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
Growth failure in early childhood v0.16 SRCAP Ivone Leong Source Expert list was added to SRCAP.
Added phenotypes Floating Harbor for gene: SRCAP
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
Growth failure in early childhood v0.16 PIK3R1 Ivone Leong Source Expert list was added to PIK3R1.
Added phenotypes SHORT for gene: PIK3R1
Growth failure in early childhood v0.16 PCNT Ivone Leong Source Expert list was added to PCNT.
Added phenotypes MOPDII for gene: PCNT
Growth failure in early childhood v0.16 ORC6 Ivone Leong Source Expert list was added to ORC6.
Added phenotypes Meier-Gorlin for gene: ORC6
Growth failure in early childhood v0.16 ORC4 Ivone Leong Source Expert list was added to ORC4.
Added phenotypes Meier-Gorlin for gene: ORC4
Growth failure in early childhood v0.16 ORC1 Ivone Leong Source Expert list was added to ORC1.
Added phenotypes Meier-Gorlin for gene: ORC1
Growth failure in early childhood v0.16 OBSL1 Ivone Leong Source Expert list was added to OBSL1.
Added phenotypes 3M for gene: OBSL1
Growth failure in early childhood v0.16 NBN Ivone Leong Source Expert list was added to NBN.
Added phenotypes Nijmegen for gene: NBN
Growth failure in early childhood v0.16 IGF2 Ivone Leong Source Expert list was added to IGF2.
Added phenotypes SRS for gene: IGF2
Growth failure in early childhood v0.16 IGF1R Ivone Leong Source Expert list was added to IGF1R.
Added phenotypes 15q-Del for gene: IGF1R
Growth failure in early childhood v0.16 IGF1 Ivone Leong Source Expert list was added to IGF1.
Added phenotypes IGF1 for gene: IGF1
Growth failure in early childhood v0.16 HRAS Ivone Leong Source Expert list was added to HRAS.
Added phenotypes Costello for gene: HRAS
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
Growth failure in early childhood v0.16 CUL7 Ivone Leong Source Expert list was added to CUL7.
Added phenotypes 3M for gene: CUL7
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
Growth failure in early childhood v0.16 CDT1 Ivone Leong Source Expert list was added to CDT1.
Added phenotypes Meier-Gorlin for gene: CDT1
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
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
Growth failure in early childhood v0.16 CCDC8 Ivone Leong Source Expert list was added to CCDC8.
Added phenotypes 3M for gene: CCDC8
Growth failure in early childhood v0.16 BLM Ivone Leong Source Expert list was added to BLM.
Added phenotypes Bloom for gene: BLM
Growth failure in early childhood v0.16 ANKRD11 Ivone Leong Source Expert list was added to ANKRD11.
Added phenotypes KBG for gene: ANKRD11
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
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
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
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
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
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
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
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),
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Growth failure in early childhood v0.0 Ellen McDonagh Added Panel Growth failure in early childhood
Set panel types to: GMS Rare Disease Virtual