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| Additional findings_Paediatric v0.278 | LIG4 | Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 10911993, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 syndrome, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.278 | ATRX | Zornitza Stark Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome to ATR-X-related syndrome MONDO:0016980 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.274 | KAT6B | Zornitza Stark reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SBBYSS syndrome MIM #603736, Genitopatellar syndrome MIM #606170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.273 | APOB | Zornitza Stark Mode of inheritance for gene: APOB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.272 | APOB | Zornitza Stark reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolaemia, familial, 2, MIM# 144010, Hypobetalipoproteinaemia 615558; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.270 | ACADS | Zornitza Stark changed review comment from: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. Some mildly affected individuals are being identified as part of newborn screening programs. However, a diagnosis of this disorder has the potential for avoidance of unnecessary investigations, therefore promoted to Green.; to: SCAD deficiency is an autosomal recessive metabolic disorder of fatty acid beta-oxidation. Clinical features are variable: a severe form of the disorder can cause infantile onset of acidosis and neurologic impairment, whereas some patients develop only myopathy. Definitive gene-disease association. Rated category 'C' by BabySeq, due to moderate penetrance and lack of actionability. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.270 | ACADS | Zornitza Stark edited their review of gene: ACADS: Added comment: Definitive by ClinGen. However, largely just causes a biochemical abnormality, and association with clinical disease is debated.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.269 | MCCC2 | Zornitza Stark reviewed gene: MCCC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.266 | CCDC50 | Zornitza Stark reviewed gene: CCDC50: Rating: RED; Mode of pathogenicity: None; Publications: 17503326, 27911912, 24875298; Phenotypes: Deafness, autosomal dominant 44 , MIM# 607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.266 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from Myopathy and cardiomyopathy MIM#160760 to Cardiomyopathy, hypertrophic, 1, OMIM:192600; Laing early-onset distal myopathy, MONDO:0008050; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Dilated cardiomyopathy 1S, MONDO:0013262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.265 | MYH7 | Zornitza Stark edited their review of gene: MYH7: Changed phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600, Laing early-onset distal myopathy, MONDO:0008050, Left ventricular noncompaction 5, OMIM:613426, Cardiomyopathy, dilated, 1S, OMIM:613426, Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.265 | MYH7 | Zornitza Stark reviewed gene: MYH7: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 1, OMIM:192600 Laing early-onset distal myopathy, MONDO:0008050 Left ventricular noncompaction 5, OMIM:613426 Cardiomyopathy, dilated, 1S, OMIM:613426 Hypertrophic cardiomyopathy 1, MONDO:0008647, Laing distal myopathy, OMIM:160500, Dilated cardiomyopathy 1S, MONDO:0013262; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.265 | Zornitza Stark removed gene:WNT10A from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.261 | CSF2RA | Zornitza Stark reviewed gene: CSF2RA: Rating: GREEN; Mode of pathogenicity: None; Publications: 20622029, 25425184, 18955570; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.258 | EFHC1 | Zornitza Stark reviewed gene: EFHC1: Rating: RED; Mode of pathogenicity: None; Publications: 31056551, 28370826, 29750216, 33969125, 33181902; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631, {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.257 | H19 | Zornitza Stark reviewed gene: H19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.257 | AIP | Zornitza Stark reviewed gene: AIP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.257 | AIP | Paul De Fazio reviewed gene: AIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16728643, 17360484, 26187128; Phenotypes: Pituitary adenoma predisposition MIM#102200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.256 | SLC41A1 | Zornitza Stark Phenotypes for gene: SLC41A1 were changed from Parkinson disease, idiopathic to Nephronophthisis-like nephropathy 2, MIM# 619468 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.253 | SLC41A1 | Zornitza Stark reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: None; Publications: 23661805; Phenotypes: Nephronophthisis-like nephropathy 2, MIM# 619468; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.251 | ANK2 | Zornitza Stark reviewed gene: ANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22542183, 25363768, 27479843, 28554332, 30564305, 30755392, 31981491, 33004838, 33057194; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.250 | TTC21B | Zornitza Stark Phenotypes for gene: TTC21B were changed from Bardet-Biedl syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.247 | TTC21B | Zornitza Stark reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341, 25492405, 18327258, 33875766; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.247 | NEK8 | Zornitza Stark Phenotypes for gene: NEK8 were changed from Nephronophthisis to Renal-hepatic-pancreatic dysplasia 2, MIM# 615415; MONDO:0014174 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.244 | NEK8 | Zornitza Stark reviewed gene: NEK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33131162, 23418306, 26862157, 26697755, 26967905, 23274954, 31633649; Phenotypes: Renal-hepatic-pancreatic dysplasia 2, MIM# 615415, MONDO:0014174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.243 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706; 33938610 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID Review for gene: CEP83 was set to GREEN Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis. PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. Sources: Expert Review |
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| Additional findings_Paediatric v0.242 | SLCO2A1 | Zornitza Stark Phenotypes for gene: SLCO2A1 were changed from Hypertrophic osteoarthropathy, primary, autosomal recessive 2 to Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100; Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.240 | SLCO2A1 | Zornitza Stark Mode of inheritance for gene: SLCO2A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.239 | SLCO2A1 | Zornitza Stark reviewed gene: SLCO2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23509104, 27134495, 33852188, 22331663, 27134495; Phenotypes: Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100, Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.236 | WRAP53 | Zornitza Stark reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 21205863, 32303682, 29514627; Phenotypes: Dyskeratosis congenita, autosomal recessive 3, MIM# 613988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.236 | KLF1 | Zornitza Stark Phenotypes for gene: KLF1 were changed from Anemia, dyserythropoietic congenital, type IV to Dyserythropoietic anaemia, congenital, type IV, MIM# 613673; MONDO:0013355 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.233 | KLF1 | Zornitza Stark reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21055716, 33339573, 32815883, 32221653, 32032242, 31818881; Phenotypes: Dyserythropoietic anaemia, congenital, type IV, MIM# 613673, MONDO:0013355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.233 | ANKRD26 | Zornitza Stark reviewed gene: ANKRD26: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211618; Phenotypes: Thrombocytopaenia 2, MIM# 188000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.233 | MYBPC1 | Zornitza Stark Phenotypes for gene: MYBPC1 were changed from Distal arthrogryposis type I to Arthrogryposis, distal, type 1B 614335; Lethal congenital contracture syndrome 4, MIM# 614915; Myopathy, congenital, with tremor MIM#618524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.231 | MYBPC1 | Zornitza Stark Mode of inheritance for gene: MYBPC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.229 | MYBPC1 | Zornitza Stark reviewed gene: MYBPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20045868, 22610851, 23873045, 26661508, 31264822, 31025394; Phenotypes: Arthrogryposis, distal, type 1B 614335, Lethal congenital contracture syndrome 4, MIM# 614915, Myopathy, congenital, with tremor MIM#618524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.227 | PLG | Zornitza Stark Mode of inheritance for gene: PLG was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.226 | PLG | Zornitza Stark reviewed gene: PLG: Rating: GREEN; Mode of pathogenicity: None; Publications: 28795768, 29548426, 29987869, 9242524, 10233898, 21174000, 21174000; Phenotypes: Hereditary angioedema-4 (HAE4), MIM#619360, Plasminogen deficiency, type I, MIM# 217090; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.224 | SHANK3 | Zornitza Stark reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842224, 16284256, 17173049, 20186804, 22892527; Phenotypes: Phelan-McDermid syndrome, MIM# 606232, MONDO:0011652; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.222 | P2RY12 | Zornitza Stark Mode of inheritance for gene: P2RY12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.221 | P2RY12 | Zornitza Stark reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.221 | Zornitza Stark removed gene:TGFBR3 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.220 | RETREG1 | Zornitza Stark Phenotypes for gene: RETREG1 were changed from Neuropathy, hereditary sensory and autonomic, type IIB to Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115; MONDO:0013142 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.217 | RETREG1 | Zornitza Stark reviewed gene: RETREG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19838196, 24327336, 31737055, 31596031; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115, MONDO:0013142; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.217 | NEK1 | Zornitza Stark Phenotypes for gene: NEK1 were changed from Short rib-polydactyly syndorme, type II to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.214 | NEK1 | Zornitza Stark reviewed gene: NEK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21211617, 22499340, 25492405, 28123176; Phenotypes: Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.214 | MED25 | Zornitza Stark Phenotypes for gene: MED25 were changed from Charcot-Marie-Tooth disease to Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449; Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.211 | MED25 | Zornitza Stark reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25792360, 32816121; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449, Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.209 | FBN2 | Zornitza Stark Mode of inheritance for gene: FBN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.208 | FBN2 | Zornitza Stark reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33571691; Phenotypes: Contractural arachnodactyly, congenital MIM#121050; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.205 | AP4M1 | Zornitza Stark reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559397, 21937992, 21937992, 32979048, 31915823, 29096665, 28464862, 25496299; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.204 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 Review for gene: AP4B1 was set to GREEN Added comment: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 unrelated families reported. Sources: Expert Review |
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| Additional findings_Paediatric v0.202 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 Review for gene: AP4E1 was set to GREEN Added comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported. Sources: Expert Review |
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| Additional findings_Paediatric v0.198 | CDT1 | Zornitza Stark reviewed gene: CDT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 21358631, 33338304, 22333897; Phenotypes: Meier-Gorlin syndrome 4, MIM# 613804, MONDO:0013431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.196 | CDK5RAP2 | Zornitza Stark reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15793586, 22887808, 23995685, 23726037, 27761245, 20460369, 32677750, 32015000; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804, MONDO:0011488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.195 | ITGA3 | Zornitza Stark reviewed gene: ITGA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22512483, 25810266, 27717396, 32198874, 26854491; Phenotypes: Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.193 | ACSF3 | Zornitza Stark reviewed gene: ACSF3: Rating: RED; Mode of pathogenicity: None; Publications: 21841779, 30740739; Phenotypes: Combined malonic and methylmalonic aciduria MIM#614265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.190 | NEUROG3 | Zornitza Stark reviewed gene: NEUROG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16855267, 32574610, 28724572, 21490072; Phenotypes: Diarrhoea 4, malabsorptive, congenital, MIM# 610370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.190 | PRPS1 | Lilian Downie reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.190 | OTOG | Lilian Downie reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.190 | MSRB3 | Lilian Downie reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.190 | LMX1A |
Lilian Downie gene: LMX1A was added gene: LMX1A was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMX1A were set to Deafness MIM#601412 Added comment: Can be paediatric or adult onset ?inclusion Sources: Expert list |
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| Additional findings_Paediatric v0.190 | KCNQ1 | Lilian Downie reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.187 | RAB3GAP2 | Zornitza Stark reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.184 | MGAT2 | Zornitza Stark reviewed gene: MGAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 8808595, 11228641, 22105986, 33044030, 31420886; Phenotypes: Congenital disorder of glycosylation, type IIa, MIM# 212066, MGAT2-CDG, MONDO:0008908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.184 | PIGA | Zornitza Stark edited their review of gene: PIGA: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.184 | PIGA | Zornitza Stark Phenotypes for gene: PIGA were changed from Epileptic encephalopathy, early-onset to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.181 | PIGA | Zornitza Stark reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22305531, 24357517, 24706016, 26545172, 33333793, 32694024; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.178 | MPDU1 | Zornitza Stark reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11733564, 11733556, 31741824, 29721919; Phenotypes: Congenital disorder of glycosylation, type If, MIM# 609180, MPDU1-CDG, MONDO:0012211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.175 | DOLK | Zornitza Stark reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: DK1-CDG, MONDO:0012556, Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.173 | COG5 | Zornitza Stark reviewed gene: COG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23228021, 31572517, 32174980; Phenotypes: Congenital disorder of glycosylation, type IIi, MIM# 613612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.172 | KARS | Zornitza Stark Phenotypes for gene: KARS were changed from Hearing loss; Charcot-Marie-Tooth disease, recessive intermediate to deafness with progressive leukodystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.165 | GRHL2 | Zornitza Stark reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.163 | LARS2 | Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.163 | KARS | Lilian Downie reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30737337, 31116475, 30715177; Phenotypes: deafness with progressive leukodystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.163 | HGF | Lilian Downie reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal recessive non syndromic deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.163 | HARS2 | Lilian Downie reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome, autosomal recessive sensorineural hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.163 | GRHL2 | Lilian Downie reviewed gene: GRHL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Autosomal dominant hearing loss, MIM# 608641; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.160 | ALG9 | Zornitza Stark reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 28932688, 25966638, 26453364; Phenotypes: Congenital disorder of glycosylation, type Il, MIM#608776, Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.155 | EDNRB | Zornitza Stark Mode of inheritance for gene: EDNRB was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.146 | DIAPH1 | Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Hearing loss to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.140 | GATA3 |
Lilian Downie gene: GATA3 was added gene: GATA3 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Review for gene: GATA3 was set to GREEN Added comment: Sources: Expert list |
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| Additional findings_Paediatric v0.140 | EDNRB | Lilian Downie reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4A, MIM# 277580; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.140 | COL9A2 | Lilian Downie reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.140 | COL9A1 | Lilian Downie reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Stickler syndrome, type IV, MIM#614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.140 | EDN3 | Lilian Downie reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.140 | DIAPH1 | Lilian Downie reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.140 | CCDC50 | Lilian Downie reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: childhood onset deafness, progressive; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.140 | DMXL2 |
Lilian Downie gene: DMXL2 was added gene: DMXL2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663 Review for gene: DMXL2 was set to GREEN Added comment: EE and deafness Sources: Expert list |
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| Additional findings_Paediatric v0.134 | CDC14A |
Lilian Downie gene: CDC14A was added gene: CDC14A was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 Review for gene: CDC14A was set to GREEN Added comment: Sources: Expert list |
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| Additional findings_Paediatric v0.134 | STAC3 | Zornitza Stark Phenotypes for gene: STAC3 were changed from Myopathy, Native American to Myopathy, congenital, Baily-Bloch, MIM# 255995 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.131 | STAC3 | Zornitza Stark reviewed gene: STAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23736855, 28411587, 28777491, 30168660; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.131 | SPEG | Zornitza Stark Phenotypes for gene: SPEG were changed from Centronuclear myopathy with dilated cardiomyopathy to Centronuclear myopathy 5, MIM# 615959 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.128 | SPEG | Zornitza Stark reviewed gene: SPEG: Rating: GREEN; Mode of pathogenicity: None; Publications: 25087613, 31625632, 30412272, 30157964, 29614691, 29474540, 28624463, 26578207, 25087613; Phenotypes: Centronuclear myopathy 5, MIM# 615959; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.124 | AR | Kristin Rigbye reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.124 | AR | Kristin Rigbye Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.124 | AR | Kristin Rigbye reviewed gene: AR: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity (MIM#300068), XLR; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.121 | GABRG2 | Zornitza Stark Added comment: Comment when marking as ready: Molecular diagnosis even in the milder phenotypes has the potential to reduce the need for investigations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.121 | GABRG2 | Zornitza Stark Phenotypes for gene: GABRG2 were changed from vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681 to Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.120 | GABRG2 | Zornitza Stark Phenotypes for gene: GABRG2 were changed from Epilepsy, childhood absence with febrile seizure to vEpilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681; Epileptic encephalopathy, early infantile, 74 MIM# 618396; Febrile seizures, familial, 8 MIM# 607681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.110 | F5 | Zornitza Stark Phenotypes for gene: F5 were changed from Risk for deep vein thrombosis to Factor V deficiency MIM# 227400; Thrombophilia due to activated protein C resistance MIM# 188055 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.109 | F5 | Zornitza Stark Mode of inheritance for gene: F5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.106 | F13B |
Lilian Downie changed review comment from: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature. Sources: Expert list; to: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature, only a milder bleeding phenotype post surgery in heterozygotes? Insufficient evidence for inclusion? Sources: Expert list |
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| Additional findings_Paediatric v0.106 | F13B |
Lilian Downie gene: F13B was added gene: F13B was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: F13B were set to PMID: 31013569 Phenotypes for gene: F13B were set to Factor XIIIB deficiency MIM# 613235 Review for gene: F13B was set to RED Added comment: Factor XIII deficiency is an autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing. Most cases of congenital factor XIII deficiency result from mutation in the A subunit. Not reviewed by Babyseq, included in NC NEXUS with the indication for 'intracranial bleeding' but I can't find evidence of childhood onset intracranial bleeding in literature. Sources: Expert list |
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| Additional findings_Paediatric v0.106 | F5 | Lilian Downie reviewed gene: F5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27351627; Phenotypes: Factor V deficiency MIM# 227400, Thrombophilia due to activated protein C resistance MIM# 188055; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.106 | F7 |
Lilian Downie gene: F7 was added gene: F7 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F7 were set to Factor VII deficiency MIM# 227500 Review for gene: F7 was set to GREEN Added comment: Factor VII deficiency is an autosomal recessive bleeding disorder showing variable severity. Not reviewed by Babyseq, included in NC NEXUS list. Bleeding treatable with factor replacement. Sources: Expert list |
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| Additional findings_Paediatric v0.106 | FBN1 | Lilian Downie reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: multiple; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.106 | FBP1 |
Lilian Downie gene: FBP1 was added gene: FBP1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency MIM# 229700 Review for gene: FBP1 was set to GREEN Added comment: Fructose-1,6-bisphosphatase deficiency is an autosomal recessive disorder characterized by impaired gluconeogenesis. Patients present with hypoglycemia and metabolic acidosis on fasting and may have episodes of hyperventilation, apnea, hypoglycemia, and ketosis. Although the disorder may be lethal in the newborn period, proper treatment yields an excellent prognosis. No reviewed by Babyseq, included in NC NEXUS. Sources: Expert list |
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| Additional findings_Paediatric v0.106 | FGFR3 | Lilian Downie reviewed gene: FGFR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.106 | FH | Lilian Downie reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fumurase deficiency MIM# 606812, Leiomyomatosis and renal cell cancer MIM# 150800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.106 | GABRG2 | Lilian Downie reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27864268; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681, Epileptic encephalopathy, early infantile, 74 MIM# 618396, Febrile seizures, familial, 8 MIM# 607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.103 | GIF | Zornitza Stark reviewed gene: GIF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.101 | GATA2 | Zornitza Stark reviewed gene: GATA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 21 MIM# 614172, Emberger syndrome MIM# 614038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.101 | GATA2 |
Lilian Downie gene: GATA2 was added gene: GATA2 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA2 were set to PMID: 25397911, 30047422 Phenotypes for gene: GATA2 were set to Immunodeficiency 21 MIM# 614172; Emberger syndrome MIM# 614038 Review for gene: GATA2 was set to AMBER Added comment: Gene not curated by Babyseq, included in NC NEXUS. This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. In the absence of cytogenetic abnormalities or overt dysplasia, hypoplastic bone marrow may initially be diagnosed as aplastic anemia. Bone marrow transplantation is the only cure. Allelic disease with phenotypic overalp lymphoedema with SNHL (Emberger syndrome). Onset of immunodeficiency may not be until later childhood early adulthood. Sources: Expert list |
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| Additional findings_Paediatric v0.101 | GGCX |
Lilian Downie gene: GGCX was added gene: GGCX was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 Review for gene: GGCX was set to GREEN Added comment: Deficiency of all vitamin K-dependent clotting factors leads to a bleeding tendency that is usually reversed by oral administration of vitamin K. Can cause fatal haemmorhage in the first few weeks of life. Non reviewed by Babyseq, included in NC NEXUS list. Sources: Expert list |
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| Additional findings_Paediatric v0.101 | GIF |
Lilian Downie gene: GIF was added gene: GIF was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GIF were set to Intrinsic factor deficiency # 261000 Added comment: Congenital pernicious anemia (PA), or intrinsic factor deficiency, is a rare disorder characterized by the lack of gastric intrinsic factor in the presence of normal acid secretion and mucosal cytology and the absence of GIF antibodies that are found in the acquired form of pernicious anemia. Childhood onset disease treatable with B12 injections. Not reviewed by Babyseq, on NC NEXUS list. Sources: Expert list |
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| Additional findings_Paediatric v0.101 | HADH | Lilian Downie reviewed gene: HADH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.101 | HNF4A | Lilian Downie reviewed gene: HNF4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypoglycaemia, hyperinsulinaemic; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.101 | HSD3B2 |
Lilian Downie gene: HSD3B2 was added gene: HSD3B2 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 Review for gene: HSD3B2 was set to GREEN Added comment: Classic 3-beta-hydroxysteroid dehydrogenase deficiency is an autosomal recessive form of CAH characterized by a severe impairment of steroid biosynthesis in both the adrenals and the gonads, resulting in decreased excretion of cortisol and aldosterone and of progesterone, androgens, and estrogens by these tissues. Affected newborns exhibit signs and symptoms of glucocorticoid and mineralocorticoid deficiencies, which may be fatal if not diagnosed and treated early, especially in the severe salt-wasting form. Moreover, male newborns exhibit pseudohermaphroditism with incomplete masculinization of the external genitalia due to an impairment of androgen biosynthesis in the testis. In contrast, affected females exhibit normal sexual differentiation or partial virilization. Severe treatable neonatal onset disease. No reviwed by babyseq, included in NC NEXUS. Sources: Expert list |
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| Additional findings_Paediatric v0.101 | IL7R |
Lilian Downie gene: IL7R was added gene: IL7R was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 Review for gene: IL7R was set to GREEN Added comment: SCID - severe neonatal presentation, treatment with BMT. Not reviewed by babyseq, included in NC NEXUS. Sources: Expert list |
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| Additional findings_Paediatric v0.98 | WHRN | Zornitza Stark reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: None; Publications: 17171570, 21738389, 22147658, 26338283, 12833159, 20502675, 28254438, 27117407, 12833159, 29270100, 15841483; Phenotypes: Usher syndrome, type 2D, MIM# 611383, Deafness, autosomal recessive 31, MIM# 607084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.95 | RDX | Zornitza Stark reviewed gene: RDX: Rating: GREEN; Mode of pathogenicity: None; Publications: 17226784, 19215054, 22567349, 26226137, 15314067; Phenotypes: Deafness, autosomal recessive 24, MIM# 611022; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.92 | GRXCR1 | Zornitza Stark reviewed gene: GRXCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20137778, 25802247, 26226137, 26445815, 26969326, 20137774; Phenotypes: Deafness, autosomal recessive 25, MIM# 613285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.90 | COCH | Zornitza Stark Mode of inheritance for gene: COCH was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.89 | COCH | Zornitza Stark reviewed gene: COCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 16151338, 28116169, 28099493, 9806553, 17561763, 21046548, 26256111, 22931125, 22610276, 18312449, 28733840, 18697796, 29449721, 32939038, 32562050; Phenotypes: Deafness, autosomal dominant 9, MIM# 601369, Deafness, autosomal recessive 110, MIM# 618094; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.86 | ESPN | Zornitza Stark reviewed gene: ESPN: Rating: GREEN; Mode of pathogenicity: None; Publications: 15286153, 18973245, 26445815, 28281779, 10975527, 15930085; Phenotypes: Deafness, autosomal recessive 36, MIM# 609006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.83 | CLPP | Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23541340, 27087618, 27899912, 25254289; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.82 | CIB2 |
Zornitza Stark gene: CIB2 was added gene: CIB2 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CIB2 were set to 23023331; 23023331; 26173970; 26473954; 27344577; 26226137; 26445815 Phenotypes for gene: CIB2 were set to Deafness, autosomal recessive 48, MIM# 609439 Review for gene: CIB2 was set to GREEN Added comment: DEFINITIVE association with isolated deafness, REFUTED association with Usher syndrome by ClinGen. Multiple families, mouse and zebrafish animal models, all families but one with isolated deafness. Sources: Expert list |
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| Additional findings_Paediatric v0.77 | DUOXA2 | Zornitza Stark Phenotypes for gene: DUOXA2 were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 5, MIM# 274900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.75 | DUOXA2 | Zornitza Stark edited their review of gene: DUOXA2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.75 | IYD | Zornitza Stark Added comment: Comment when marking as ready: More than 4 families reported, treatable disorder. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.75 | IYD | Zornitza Stark Phenotypes for gene: IYD were changed from Thyroid dyshormonogenesis to Thyroid dyshormonogenesis 4, MIM# 274800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | INS |
Lilian Downie gene: INS was added gene: INS was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: INS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: INS were set to Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life Review for gene: INS was set to GREEN Added comment: Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life. Not assessed by Babyseq, included in NC NEXUS list. Sources: Expert list |
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| Additional findings_Paediatric v0.69 | IRF6 | Lilian Downie reviewed gene: IRF6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: van der Woude syndrome MIM# 119300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.69 | IYD | Lilian Downie reviewed gene: IYD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18434651, 18765512, 30240412; Phenotypes: Thyroid dyshormonogenesis 4 MIM# 274800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.68 | MYH7 | Zornitza Stark Phenotypes for gene: MYH7 were changed from Left ventricular noncompaction; Cardiomyopathy, familial hypertrophic; Cardiomyopathy, dilated; Congenital fiber type disproportion; Myopathy, myosin storage; Laing distal myopathy; Scapuloperoneal syndrome, myopathic type to Myopathy and cardiomyopathy MIM#160760 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.66 | NTRK1 | Zornitza Stark Phenotypes for gene: NTRK1 were changed from Medullary thyroid carcinoma, familial; Congenital insensitivity to pain with anhidrosis to Congenital insensitivity to pain with anhidrosis MIM#256800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.63 | DUOXA2 | Zornitza Stark edited their review of gene: DUOXA2: Changed phenotypes: Thyroid dyshormonogenesis 5, MIM# 274900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.63 | DUOXA2 | Zornitza Stark reviewed gene: DUOXA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.61 | DCX | Zornitza Stark reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lissencephaly, X-linked, MIM# 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.59 | COL1A1 | Zornitza Stark reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type I; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.56 | CLCN7 | Zornitza Stark reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 4, MIM# 611490; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.55 | CLCN1 | Zornitza Stark Mode of inheritance for gene: CLCN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.54 | CLCN1 | Zornitza Stark reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonia congenita, dominant, MIM# 160800, Myotonia congenita, recessive, MIM# 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.52 | CAV3 | Zornitza Stark Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic; Rippling muscle disease; Long QT syndrome-9; Caveolinopathy; Muscular dystrophy, limb-girdle, type IC, to Muscular dystrophy, limb-girdle, type IC; Caveolinopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.49 | CAV3 | Zornitza Stark reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, type IC, Caveolinopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.48 | CARD11 |
Zornitza Stark gene: CARD11 was added gene: CARD11 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: CARD11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CARD11 were set to 23561803; 12818158; 23374270; 28628108 Phenotypes for gene: CARD11 were set to Immunodeficiency 11A, MIM# 615206 Review for gene: CARD11 was set to GREEN Added comment: At least two individuals with bi-allelic, and four with mono-allelic variants, animal model. Included in NC NEXUS panel. Sources: Expert list |
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| Additional findings_Paediatric v0.47 | KRIT1 |
Lilian Downie gene: KRIT1 was added gene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860 Review for gene: KRIT1 was set to AMBER Added comment: Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's. Sources: Expert list |
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| Additional findings_Paediatric v0.47 | MYH7 | Lilian Downie reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy and cardiomyopathy MIM#160760; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.47 | NTRK1 | Lilian Downie reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.44 | BSCL2 | Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipodystrophy, congenital generalized, type 2, MIM# 269700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.36 | RYR1 | Zornitza Stark Phenotypes for gene: RYR1 were changed from Centronuclear myopathy; Congenital fiber type disproportion; Multiminicore disease; Central core disease; Malignant hyperthermia to Malignant hyperthermia, multiminicore disease MIM#180901 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.35 | RYR1 | Zornitza Stark Mode of inheritance for gene: RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.32 | PALB2 | Lilian Downie reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17200671; Phenotypes: Fanconi anemia, complementation group N MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.26 | SGCD | Zornitza Stark Phenotypes for gene: SGCD were changed from Cardiomyopathy, dilated; Muscular dystrophy, limb-girdle, type 2F to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.21 | Zornitza Stark removed gene:P2RY1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | P2RY12 |
Lilian Downie gene: P2RY12 was added gene: P2RY12 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: P2RY12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8 MIM# 609821 Added comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list. Sources: Expert list Sources: Expert list |
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| Additional findings_Paediatric v0.20 | P2RY1 |
Lilian Downie gene: P2RY1 was added gene: P2RY1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: P2RY1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: P2RY1 were set to Bleeding disorder, platelet-type, 8, MIM# 609821 Review for gene: P2RY1 was set to GREEN Added comment: Characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation. Onset childhood. Treatable with FFP for procedures. Not reviewed by Babyseq, in the NC NEXUS list. Sources: Expert list |
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| Additional findings_Paediatric v0.20 | PIK3CD |
Lilian Downie gene: PIK3CD was added gene: PIK3CD was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513 Review for gene: PIK3CD was set to GREEN Added comment: Primary immunodeficiency, characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas . Not reviewed by Babyseq, included in NCNEXUS list. Treatable Sources: Expert list |
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| Additional findings_Paediatric v0.20 | PTPRC |
Lilian Downie gene: PTPRC was added gene: PTPRC was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460 Review for gene: PTPRC was set to GREEN Added comment: Not reviewed by Babyseq, paediatric onset disease that is actionable with BMT (included in NCNEXUS list). Sources: Expert list |
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| Additional findings_Paediatric v0.20 | PYGM |
Lilian Downie gene: PYGM was added gene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455 Review for gene: PYGM was set to GREEN Added comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria Not reviewed by Babyseq, included in NCNEXUS newborn screening list. Actionable by controlled physical activity and programmed glucose intake. Sources: Expert list |
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| Additional findings_Paediatric v0.20 | RYR1 | Lilian Downie reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: malignant hyperthermia, multiminicore disease MIM#180901; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | SCNN1B | Lilian Downie reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pseudohypoaldosteronism, type I MIM# 264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | SERPINA1 | Lilian Downie reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Emphysema due to AAT deficiency, OMIM #107400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | SFTPC | Lilian Downie reviewed gene: SFTPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | SGCD | Lilian Downie reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | SLC6A19 | Lilian Downie reviewed gene: SLC6A19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder MIM # 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.18 | BRAF | Zornitza Stark reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.16 | BMPR1A | Zornitza Stark reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.15 | BCHE |
Zornitza Stark gene: BCHE was added gene: BCHE was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936 Review for gene: BCHE was set to GREEN Added comment: Individuals deficient in butyrylcholinesterase (BCHE) appear asymptomatic, apart from a heightened sensitivity to muscle relaxants such as suxamethonium (succinylcholine) and mivacurium, 2 BCHE carboxylester substrates. In individuals with usual BCHE levels, these drugs are rapidly hydrolyzed in plasma and their duration of action is short (less than 10 minutes). BCHE deficiency results in slower hydrolysis of these drugs and, consequently, a prolonged neuromuscular block, leading to apnea. Prolonged neuromuscular block occurs with BCHE deficiencies of marked severity (impairment over 70%). Sources: Expert list |
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| Additional findings_Paediatric v0.12 | ATP7A | Zornitza Stark reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Menkes disease, MIM# 309400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.12 | AR | Zornitza Stark edited their review of gene: AR: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.10 | AR | Zornitza Stark reviewed gene: AR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Androgen insensitivity, MIM# 300068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.8 | APRT | Zornitza Stark reviewed gene: APRT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenine phosphoribosyltransferase deficiency, MIM# 614723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.5 | ACADS | Zornitza Stark reviewed gene: ACADS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of 201470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ABCC2 | Zornitza Stark reviewed gene: ABCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30344695, 11477083; Phenotypes: Dubin-Johnson syndrome, MIM# 237500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ZNF252P |
Zornitza Stark gene: ZNF252P was added gene: ZNF252P was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ZNF252P was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ZNF252P were set to Hypothyroidism |
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| Additional findings_Paediatric v0.2 | YARS2 |
Zornitza Stark gene: YARS2 was added gene: YARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia |
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| Additional findings_Paediatric v0.2 | WNT7A |
Zornitza Stark gene: WNT7A was added gene: WNT7A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNT7A were set to Ulna and fibula absence of with severe limb deficiency |
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| Additional findings_Paediatric v0.2 | WNK1 |
Zornitza Stark gene: WNK1 was added gene: WNK1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: WNK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WNK1 were set to Neuropathy, hereditary sensory and autonomic, type I |
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| Additional findings_Paediatric v0.2 | WDR19 |
Zornitza Stark gene: WDR19 was added gene: WDR19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR19 were set to Nephronophthisis |
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| Additional findings_Paediatric v0.2 | TUBA8 |
Zornitza Stark gene: TUBA8 was added gene: TUBA8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia |
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| Additional findings_Paediatric v0.2 | TSPYL1 |
Zornitza Stark gene: TSPYL1 was added gene: TSPYL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome |
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| Additional findings_Paediatric v0.2 | TRHR |
Zornitza Stark gene: TRHR was added gene: TRHR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TRHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRHR were set to Thyrotropin-releasing hormone resistance, generalized |
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| Additional findings_Paediatric v0.2 | TRH |
Zornitza Stark gene: TRH was added gene: TRH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TRH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRH were set to Thyrotropin-releasing hormone deficiency |
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| Additional findings_Paediatric v0.2 | TMPO |
Zornitza Stark gene: TMPO was added gene: TMPO was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TMPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMPO were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | THBS1 |
Zornitza Stark gene: THBS1 was added gene: THBS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: THBS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THBS1 were set to Pulmonary hypertension |
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| Additional findings_Paediatric v0.2 | THBD |
Zornitza Stark gene: THBD was added gene: THBD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THBD were set to Haemolytic uraemic syndrome |
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| Additional findings_Paediatric v0.2 | TGFB3 |
Zornitza Stark gene: TGFB3 was added gene: TGFB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TGFB3 were set to Arrhythmogenic right ventricular dysplasia |
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| Additional findings_Paediatric v0.2 | TCAP |
Zornitza Stark Source BabySeq Category C gene was added to TCAP. Source Expert Review Red was added to TCAP. Added phenotypes Cardiomyopathy, dilated for gene: TCAP Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | TBCE |
Zornitza Stark gene: TBCE was added gene: TBCE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TBCE were set to Hypoparathyroidism retardation dysmorphism syndrome |
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| Additional findings_Paediatric v0.2 | STAC3 |
Zornitza Stark gene: STAC3 was added gene: STAC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STAC3 were set to Myopathy, Native American |
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| Additional findings_Paediatric v0.2 | ST14 |
Zornitza Stark gene: ST14 was added gene: ST14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ST14 were set to Ichthyosis hypotrichosis syndrome |
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| Additional findings_Paediatric v0.2 | SPTLC2 |
Zornitza Stark gene: SPTLC2 was added gene: SPTLC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC |
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| Additional findings_Paediatric v0.2 | SPEG |
Zornitza Stark gene: SPEG was added gene: SPEG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SPEG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPEG were set to Centronuclear myopathy with dilated cardiomyopathy |
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| Additional findings_Paediatric v0.2 | SNAP29 |
Zornitza Stark gene: SNAP29 was added gene: SNAP29 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
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| Additional findings_Paediatric v0.2 | SLC9A3R1 |
Zornitza Stark gene: SLC9A3R1 was added gene: SLC9A3R1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC9A3R1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC9A3R1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 2 |
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| Additional findings_Paediatric v0.2 | SLC6A2 |
Zornitza Stark gene: SLC6A2 was added gene: SLC6A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC6A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC6A2 were set to Orthostatic intolerance |
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| Additional findings_Paediatric v0.2 | SLC4A4 |
Zornitza Stark gene: SLC4A4 was added gene: SLC4A4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities |
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| Additional findings_Paediatric v0.2 | SLC41A1 |
Zornitza Stark gene: SLC41A1 was added gene: SLC41A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC41A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC41A1 were set to Parkinson disease, idiopathic |
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| Additional findings_Paediatric v0.2 | SLC35A2 |
Zornitza Stark gene: SLC35A2 was added gene: SLC35A2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC35A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC35A2 were set to Early-onset epileptic encephalopathy |
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| Additional findings_Paediatric v0.2 | SLC25A22 |
Zornitza Stark gene: SLC25A22 was added gene: SLC25A22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A22 were set to Early myoclonic encephalopathy |
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| Additional findings_Paediatric v0.2 | SLC16A12 |
Zornitza Stark gene: SLC16A12 was added gene: SLC16A12 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SLC16A12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC16A12 were set to Cataract, juvenile with microcornea and renal glucosuria |
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| Additional findings_Paediatric v0.2 | SHOC2 |
Zornitza Stark gene: SHOC2 was added gene: SHOC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair |
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| Additional findings_Paediatric v0.2 | SGCD |
Zornitza Stark Source BabySeq Category C gene was added to SGCD. Source Expert Review Red was added to SGCD. Added phenotypes Cardiomyopathy, dilated for gene: SGCD Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | SFTPA2 |
Zornitza Stark gene: SFTPA2 was added gene: SFTPA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SFTPA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SFTPA2 were set to Pulmonary fibrosis, idiopathic |
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| Additional findings_Paediatric v0.2 | SERPINC1 |
Zornitza Stark gene: SERPINC1 was added gene: SERPINC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SERPINC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency |
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| Additional findings_Paediatric v0.2 | SCP2 |
Zornitza Stark gene: SCP2 was added gene: SCP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SCP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCP2 were set to Leukoencephalopathy - dystonia - motor neuropathy |
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| Additional findings_Paediatric v0.2 | SC5D |
Zornitza Stark gene: SC5D was added gene: SC5D was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SC5D were set to Lathosterolosis |
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| Additional findings_Paediatric v0.2 | RFX6 |
Zornitza Stark gene: RFX6 was added gene: RFX6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia |
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| Additional findings_Paediatric v0.2 | PRRX1 |
Zornitza Stark gene: PRRX1 was added gene: PRRX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PRRX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRRX1 were set to Agnathia-otocephaly complex |
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| Additional findings_Paediatric v0.2 | PRPS1 | Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: PRPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | PRKAG2 |
Zornitza Stark Source BabySeq Category C gene was added to PRKAG2. Source Expert Review Red was added to PRKAG2. Added phenotypes Glycogen storage disease of heart, lethal congenital for gene: PRKAG2 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | PNPLA1 |
Zornitza Stark gene: PNPLA1 was added gene: PNPLA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PNPLA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPLA1 were set to Ichthyosis, autosomal recessive congenital |
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| Additional findings_Paediatric v0.2 | PLN |
Zornitza Stark Source BabySeq Category C gene was added to PLN. Source Expert Review Red was added to PLN. Added phenotypes Cardiomyopathy, familial hypertrophic for gene: PLN Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | PIGA |
Zornitza Stark gene: PIGA was added gene: PIGA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIGA were set to Epileptic encephalopathy, early-onset |
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| Additional findings_Paediatric v0.2 | PDSS2 |
Zornitza Stark gene: PDSS2 was added gene: PDSS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS2 were set to Leigh syndrome with nephropathy and COQ10 deficiency |
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| Additional findings_Paediatric v0.2 | PDSS1 |
Zornitza Stark gene: PDSS1 was added gene: PDSS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDSS1 were set to Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal |
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| Additional findings_Paediatric v0.2 | PDLIM3 |
Zornitza Stark gene: PDLIM3 was added gene: PDLIM3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: PDLIM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDLIM3 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | OPA3 |
Zornitza Stark Source BabySeq Category C gene was added to OPA3. Source Expert Review Red was added to OPA3. Mode of inheritance for gene OPA3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Optic atrophy 3 with cataract for gene: OPA3 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | NTRK1 |
Zornitza Stark Source BabySeq Category C gene was added to NTRK1. Source Expert Review Red was added to NTRK1. Mode of inheritance for gene NTRK1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Medullary thyroid carcinoma, familial for gene: NTRK1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | NEXN | Zornitza Stark Added phenotypes Cardiomyopathy, familial hypertrophic for gene: NEXN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | NEXN |
Zornitza Stark gene: NEXN was added gene: NEXN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | NEK8 |
Zornitza Stark gene: NEK8 was added gene: NEK8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEK8 were set to Nephronophthisis |
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| Additional findings_Paediatric v0.2 | NEBL |
Zornitza Stark gene: NEBL was added gene: NEBL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEBL were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | MYPN | Zornitza Stark Added phenotypes Cardiomyopathy, hypertrophic for gene: MYPN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYPN |
Zornitza Stark gene: MYPN was added gene: MYPN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYPN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYPN were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | MYOZ2 |
Zornitza Stark gene: MYOZ2 was added gene: MYOZ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYOZ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOZ2 were set to Cardiomyopathy, hypertrophic |
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| Additional findings_Paediatric v0.2 | MYOT |
Zornitza Stark gene: MYOT was added gene: MYOT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOT were set to Myofibrillar myopathy |
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| Additional findings_Paediatric v0.2 | MYOM1 |
Zornitza Stark gene: MYOM1 was added gene: MYOM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYOM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYOM1 were set to Cardiomyopathy, hypertrophic |
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| Additional findings_Paediatric v0.2 | MYLK2 |
Zornitza Stark gene: MYLK2 was added gene: MYLK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYLK2 was set to Unknown Phenotypes for gene: MYLK2 were set to Cardiomyopathy, hypertrophic |
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| Additional findings_Paediatric v0.2 | MYH7 |
Zornitza Stark Source BabySeq Category C gene was added to MYH7. Source Expert Review Red was added to MYH7. Added phenotypes Scapuloperoneal syndrome, myopathic type for gene: MYH7 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | MYH6 | Zornitza Stark Added phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH6 | Zornitza Stark Added phenotypes Cardiomyopathy, dilated for gene: MYH6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYBPC3 |
Zornitza Stark Source BabySeq Category C gene was added to MYBPC3. Source Expert Review Red was added to MYBPC3. Added phenotypes Cardiomyopathy, dilated for gene: MYBPC3 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | MYBPC1 |
Zornitza Stark gene: MYBPC1 was added gene: MYBPC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYBPC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYBPC1 were set to Distal arthrogryposis type I |
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| Additional findings_Paediatric v0.2 | CAVIN4 |
Zornitza Stark gene: CAVIN4 was added gene: CAVIN4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CAVIN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CAVIN4 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | MUC5B |
Zornitza Stark gene: MUC5B was added gene: MUC5B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MUC5B were set to Pulmonary fibrosis, idiopathic |
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| Additional findings_Paediatric v0.2 | MTO1 |
Zornitza Stark gene: MTO1 was added gene: MTO1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTO1 were set to Hypertrophic cardiomyopathy & lactic acidosis |
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| Additional findings_Paediatric v0.2 | MT-ND6 |
Zornitza Stark gene: MT-ND6 was added gene: MT-ND6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND6 were set to Leber hereditary optic neuropathy |
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| Additional findings_Paediatric v0.2 | MT-ND4 |
Zornitza Stark gene: MT-ND4 was added gene: MT-ND4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND4 were set to Leber hereditary optic neuropathy |
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| Additional findings_Paediatric v0.2 | MT-ND1 |
Zornitza Stark gene: MT-ND1 was added gene: MT-ND1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL Phenotypes for gene: MT-ND1 were set to Leber hereditary optic neuropathy |
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| Additional findings_Paediatric v0.2 | MED25 |
Zornitza Stark gene: MED25 was added gene: MED25 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MED25 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | MCEE |
Zornitza Stark gene: MCEE was added gene: MCEE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency |
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| Additional findings_Paediatric v0.2 | MAT1A |
Zornitza Stark gene: MAT1A was added gene: MAT1A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAT1A were set to Methionine adenosyltransferase deficiency |
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| Additional findings_Paediatric v0.2 | MAPT |
Zornitza Stark gene: MAPT was added gene: MAPT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism |
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| Additional findings_Paediatric v0.2 | MAPK10 |
Zornitza Stark gene: MAPK10 was added gene: MAPK10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MAPK10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MAPK10 were set to Epileptic encephalopathy |
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| Additional findings_Paediatric v0.2 | LDB3 |
Zornitza Stark gene: LDB3 was added gene: LDB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: LDB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LDB3 were set to Myofibrillar myopathy |
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| Additional findings_Paediatric v0.2 | LAMA4 |
Zornitza Stark gene: LAMA4 was added gene: LAMA4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LAMA4 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | KLF1 |
Zornitza Stark gene: KLF1 was added gene: KLF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KLF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KLF1 were set to Anemia, dyserythropoietic congenital, type IV |
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| Additional findings_Paediatric v0.2 | KIF22 |
Zornitza Stark gene: KIF22 was added gene: KIF22 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 |
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| Additional findings_Paediatric v0.2 | KIF1B |
Zornitza Stark gene: KIF1B was added gene: KIF1B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | KCNQ1OT1 |
Zornitza Stark gene: KCNQ1OT1 was added gene: KCNQ1OT1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KCNQ1OT1 was set to Unknown Phenotypes for gene: KCNQ1OT1 were set to Beckwith-Wiedemann syndrome |
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| Additional findings_Paediatric v0.2 | KCNJ8 |
Zornitza Stark gene: KCNJ8 was added gene: KCNJ8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KCNJ8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ8 were set to Sudden infant death syndrom |
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| Additional findings_Paediatric v0.2 | KARS |
Zornitza Stark gene: KARS was added gene: KARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KARS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KARS were set to Charcot-Marie-Tooth disease, recessive intermediate |
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| Additional findings_Paediatric v0.2 | JPH2 |
Zornitza Stark gene: JPH2 was added gene: JPH2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: JPH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: JPH2 were set to Cardiomyopathy, hypertrophic |
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| Additional findings_Paediatric v0.2 | IYD |
Zornitza Stark gene: IYD was added gene: IYD was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IYD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IYD were set to Thyroid dyshormonogenesis |
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| Additional findings_Paediatric v0.2 | ITGA7 |
Zornitza Stark gene: ITGA7 was added gene: ITGA7 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ITGA7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA7 were set to Congenital muscular dystrophy with integrin deficiency |
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| Additional findings_Paediatric v0.2 | ITGA6 |
Zornitza Stark gene: ITGA6 was added gene: ITGA6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis |
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| Additional findings_Paediatric v0.2 | ISCU |
Zornitza Stark gene: ISCU was added gene: ISCU was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ISCU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ISCU were set to Myopathy with defiency of succinate dehydrogenase |
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| Additional findings_Paediatric v0.2 | ILK |
Zornitza Stark gene: ILK was added gene: ILK was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ILK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ILK were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | IGF1 |
Zornitza Stark gene: IGF1 was added gene: IGF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IGF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGF1 were set to Insulin-like growth factor deficiency |
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| Additional findings_Paediatric v0.2 | IGBP1 |
Zornitza Stark gene: IGBP1 was added gene: IGBP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IGBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGBP1 were set to Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia |
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| Additional findings_Paediatric v0.2 | IFT80 |
Zornitza Stark gene: IFT80 was added gene: IFT80 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT80 were set to Asphyxiating thoracic dystrophy 2 |
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| Additional findings_Paediatric v0.2 | HYLS1 |
Zornitza Stark gene: HYLS1 was added gene: HYLS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome |
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| Additional findings_Paediatric v0.2 | HOXA1 |
Zornitza Stark gene: HOXA1 was added gene: HOXA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome |
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| Additional findings_Paediatric v0.2 | HCCS |
Zornitza Stark gene: HCCS was added gene: HCCS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCCS were set to Microphthalmia |
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| Additional findings_Paediatric v0.2 | GTF2H5 |
Zornitza Stark gene: GTF2H5 was added gene: GTF2H5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy |
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| Additional findings_Paediatric v0.2 | GRIN2A |
Zornitza Stark gene: GRIN2A was added gene: GRIN2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GRIN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GRIN2A were set to Epilepsy with neurodevelopmental defects |
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| Additional findings_Paediatric v0.2 | GPX1 |
Zornitza Stark gene: GPX1 was added gene: GPX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GPX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPX1 were set to Hemolytic anemia due to glutathione peroxidase deficiency |
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| Additional findings_Paediatric v0.2 | GLUL |
Zornitza Stark gene: GLUL was added gene: GLUL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLUL were set to Congenital brain dysgenesis due to glutamine synthetase deficiency |
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| Additional findings_Paediatric v0.2 | GLIS3 |
Zornitza Stark gene: GLIS3 was added gene: GLIS3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism |
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| Additional findings_Paediatric v0.2 | GLE1 |
Zornitza Stark gene: GLE1 was added gene: GLE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLE1 were set to Lethal arthrogryposis with anterior horn cell disease |
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| Additional findings_Paediatric v0.2 | GFER |
Zornitza Stark gene: GFER was added gene: GFER was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GFER was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFER were set to Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay |
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| Additional findings_Paediatric v0.2 | GCSH |
Zornitza Stark gene: GCSH was added gene: GCSH was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCSH were set to Glycine encephalopathy |
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| Additional findings_Paediatric v0.2 | GCLC |
Zornitza Stark gene: GCLC was added gene: GCLC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency |
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| Additional findings_Paediatric v0.2 | GATAD1 |
Zornitza Stark gene: GATAD1 was added gene: GATAD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GATAD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GATAD1 were set to Cardiomyopathy, dilated, 2B |
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| Additional findings_Paediatric v0.2 | GATA1 |
Zornitza Stark Source BabySeq Category C gene was added to GATA1. Source Expert Review Red was added to GATA1. Added phenotypes Porphyria, congenital erythropoietic for gene: GATA1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | GABRG2 |
Zornitza Stark gene: GABRG2 was added gene: GABRG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GABRG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GABRG2 were set to Epilepsy, childhood absence with febrile seizure |
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| Additional findings_Paediatric v0.2 | GABRA1 |
Zornitza Stark gene: GABRA1 was added gene: GABRA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GABRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GABRA1 were set to Epilepsy, idiopathic generalised |
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| Additional findings_Paediatric v0.2 | FOXN1 |
Zornitza Stark gene: FOXN1 was added gene: FOXN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXN1 were set to Congenital alopecia with T-cell immunodeficiency |
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| Additional findings_Paediatric v0.2 | FOXF2 |
Zornitza Stark gene: FOXF2 was added gene: FOXF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FOXF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXF2 were set to Disorders of sex development with cleft palate |
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| Additional findings_Paediatric v0.2 | FOXE1 |
Zornitza Stark gene: FOXE1 was added gene: FOXE1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FOXE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FOXE1 were set to Bamforth-Lazarus syndrome |
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| Additional findings_Paediatric v0.2 | FMO3 |
Zornitza Stark gene: FMO3 was added gene: FMO3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FMO3 were set to Trimethylaminuria |
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| Additional findings_Paediatric v0.2 | FLNC |
Zornitza Stark gene: FLNC was added gene: FLNC was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLNC were set to Myofibrillar myopathy |
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| Additional findings_Paediatric v0.2 | FLG |
Zornitza Stark gene: FLG was added gene: FLG was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FLG were set to Ichthyosis vulgaris |
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| Additional findings_Paediatric v0.2 | FHL2 |
Zornitza Stark gene: FHL2 was added gene: FHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FHL2 were set to Cardiomyopathy, hypertrophic |
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| Additional findings_Paediatric v0.2 | FHL1 |
Zornitza Stark Source BabySeq Category C gene was added to FHL1. Source Expert Review Red was added to FHL1. Added phenotypes Myofibrillar myopathy for gene: FHL1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | RETREG1 |
Zornitza Stark gene: RETREG1 was added gene: RETREG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB |
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| Additional findings_Paediatric v0.2 | FAM111B |
Zornitza Stark gene: FAM111B was added gene: FAM111B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FAM111B were set to Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis |
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| Additional findings_Paediatric v0.2 | F5 |
Zornitza Stark gene: F5 was added gene: F5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to Risk for deep vein thrombosis |
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| Additional findings_Paediatric v0.2 | ERBB3 |
Zornitza Stark gene: ERBB3 was added gene: ERBB3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2 |
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| Additional findings_Paediatric v0.2 | EIF2B1 |
Zornitza Stark gene: EIF2B1 was added gene: EIF2B1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter |
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| Additional findings_Paediatric v0.2 | DUOXA2 |
Zornitza Stark gene: DUOXA2 was added gene: DUOXA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: DUOXA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOXA2 were set to Thyroid dyshormonogenesis |
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| Additional findings_Paediatric v0.2 | DTHD1 |
Zornitza Stark gene: DTHD1 was added gene: DTHD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: DTHD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DTHD1 were set to Leber congenital amaurosis with myopathy |
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| Additional findings_Paediatric v0.2 | DNAJC19 |
Zornitza Stark gene: DNAJC19 was added gene: DNAJC19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V |
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| Additional findings_Paediatric v0.2 | DAG1 |
Zornitza Stark gene: DAG1 was added gene: DAG1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 |
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| Additional findings_Paediatric v0.2 | CYCS |
Zornitza Stark gene: CYCS was added gene: CYCS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CYCS were set to Thrombocytopenia 4 |
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| Additional findings_Paediatric v0.2 | CTF1 |
Zornitza Stark gene: CTF1 was added gene: CTF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CTF1 was set to Unknown Phenotypes for gene: CTF1 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | CTDP1 |
Zornitza Stark gene: CTDP1 was added gene: CTDP1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CTDP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTDP1 were set to Congenital cataracts - facial dysmorphism - neuropathy |
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| Additional findings_Paediatric v0.2 | CSTA |
Zornitza Stark gene: CSTA was added gene: CSTA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to Exfoliative ichthyosis |
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| Additional findings_Paediatric v0.2 | CSRP3 |
Zornitza Stark Source BabySeq Category C gene was added to CSRP3. Source Expert Review Red was added to CSRP3. Added phenotypes Cardiomyopathy, dilated, 1M for gene: CSRP3 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | CSF1R |
Zornitza Stark gene: CSF1R was added gene: CSF1R was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids |
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| Additional findings_Paediatric v0.2 | COX4I2 |
Zornitza Stark gene: COX4I2 was added gene: COX4I2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: COX4I2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX4I2 were set to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis |
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| Additional findings_Paediatric v0.2 | COQ6 |
Zornitza Stark gene: COQ6 was added gene: COQ6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ6 were set to Nephrotic syndrome with sensorineural deafness |
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| Additional findings_Paediatric v0.2 | CLDN1 |
Zornitza Stark gene: CLDN1 was added gene: CLDN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
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| Additional findings_Paediatric v0.2 | UTP4 |
Zornitza Stark gene: UTP4 was added gene: UTP4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: UTP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UTP4 were set to North American Indian childhood cirrhosis |
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| Additional findings_Paediatric v0.2 | CHRNB1 |
Zornitza Stark gene: CHRNB1 was added gene: CHRNB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.2 | CHRM2 |
Zornitza Stark gene: CHRM2 was added gene: CHRM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHRM2 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | CCDC78 |
Zornitza Stark gene: CCDC78 was added gene: CCDC78 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CCDC78 were set to Congenital myopathy with prominent internal nuclei and atypical cores |
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| Additional findings_Paediatric v0.2 | CAV3 |
Zornitza Stark Source BabySeq Category C gene was added to CAV3. Source Expert Review Red was added to CAV3. Added phenotypes Cardiomyopathy, familial hypertrophic for gene: CAV3 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | CARS2 |
Zornitza Stark gene: CARS2 was added gene: CARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CARS2 were set to Epileptic encephalopathy |
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| Additional findings_Paediatric v0.2 | CACNA1S |
Zornitza Stark gene: CACNA1S was added gene: CACNA1S was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1S were set to Malignant hyperthermia |
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| Additional findings_Paediatric v0.2 | BPGM |
Zornitza Stark gene: BPGM was added gene: BPGM was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: BPGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BPGM were set to Erythrocytosis due to bisphosphoglycerate mutase deficiency |
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| Additional findings_Paediatric v0.2 | BAG3 |
Zornitza Stark Source BabySeq Category C gene was added to BAG3. Source Expert Review Red was added to BAG3. Added phenotypes Myopathy, myofibrillar for gene: BAG3 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ANO5 |
Zornitza Stark Source BabySeq Category C gene was added to ANO5. Source Expert Review Red was added to ANO5. Mode of inheritance for gene ANO5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Gnathodiaphyseal dysplasia for gene: ANO5 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ANKRD1 |
Zornitza Stark Source BabySeq Category C gene was added to ANKRD1. Source Expert Review Red was added to ANKRD1. Added phenotypes Cardiomyopathy, hypertrophic for gene: ANKRD1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | AMACR | Zornitza Stark Added phenotypes Alpha-methylacyl-CoA racemase deficiency for gene: AMACR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AMACR |
Zornitza Stark gene: AMACR was added gene: AMACR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4 |
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| Additional findings_Paediatric v0.2 | AHSP |
Zornitza Stark gene: AHSP was added gene: AHSP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: AHSP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AHSP were set to Thalassaemia |
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| Additional findings_Paediatric v0.2 | ACTN2 |
Zornitza Stark Source BabySeq Category C gene was added to ACTN2. Source Expert Review Red was added to ACTN2. Added phenotypes Cardiomyopathy, dilated for gene: ACTN2 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ACTA1 |
Zornitza Stark Source BabySeq Category C gene was added to ACTA1. Source Expert Review Red was added to ACTA1. Added phenotypes Congenital myopathy with fiber type disproportion for gene: ACTA1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ACBD5 |
Zornitza Stark gene: ACBD5 was added gene: ACBD5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ACBD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACBD5 were set to Thrombocytopaenia |
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| Additional findings_Paediatric v0.2 | ACADSB |
Zornitza Stark gene: ACADSB was added gene: ACADSB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADSB were set to 2-Methylbutyryl-CoA dehydrogenase deficiency |
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| Additional findings_Paediatric v0.2 | ACADL |
Zornitza Stark gene: ACADL was added gene: ACADL was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ACADL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACADL were set to Sudden infant death |
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| Additional findings_Paediatric v0.2 | ABCD4 |
Zornitza Stark gene: ABCD4 was added gene: ABCD4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type |
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| Additional findings_Paediatric v0.2 | AARS2 |
Zornitza Stark gene: AARS2 was added gene: AARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AARS2 were set to Leukoencephalopathy, and ovarian failure in females |
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| Additional findings_Paediatric v0.2 | VCL |
Zornitza Stark gene: VCL was added gene: VCL was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCL were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | TTN |
Zornitza Stark Source BabySeq Category B gene was added to TTN. Source Expert Review Amber was added to TTN. Mode of inheritance for gene TTN was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cardiomyopathy, dilated for gene: TTN Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | TPM1 |
Zornitza Stark gene: TPM1 was added gene: TPM1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM1 were set to Cardiomyopathy, hypertrophic |
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| Additional findings_Paediatric v0.2 | TNNT2 | Zornitza Stark Added phenotypes Familial hypertrophic cardiomyopathy for gene: TNNT2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | TNNT2 |
Zornitza Stark gene: TNNT2 was added gene: TNNT2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT2 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | TNNI3 | Zornitza Stark Added phenotypes Familial hypertrophic cardiomyopathy for gene: TNNI3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | TNNI3 |
Zornitza Stark gene: TNNI3 was added gene: TNNI3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: TNNI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | TNNC1 |
Zornitza Stark gene: TNNC1 was added gene: TNNC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | RYR1 |
Zornitza Stark Source BabySeq Category B gene was added to RYR1. Source Expert Review Amber was added to RYR1. Mode of inheritance for gene RYR1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Malignant hyperthermia for gene: RYR1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | RBM20 |
Zornitza Stark gene: RBM20 was added gene: RBM20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD |
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| Additional findings_Paediatric v0.2 | PRKAG2 |
Zornitza Stark Source BabySeq Category B gene was added to PRKAG2. Source Expert Review Amber was added to PRKAG2. Added phenotypes Cardiomyopathy, hypertrophic for gene: PRKAG2 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | PLN |
Zornitza Stark gene: PLN was added gene: PLN was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PLN were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | PKP2 |
Zornitza Stark gene: PKP2 was added gene: PKP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 |
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| Additional findings_Paediatric v0.2 | MYLK |
Zornitza Stark gene: MYLK was added gene: MYLK was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7 |
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| Additional findings_Paediatric v0.2 | MYL3 |
Zornitza Stark gene: MYL3 was added gene: MYL3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8 |
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| Additional findings_Paediatric v0.2 | MYL2 |
Zornitza Stark gene: MYL2 was added gene: MYL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL2 were set to Cardiomyopathy, familial hypertrophic, 10 |
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| Additional findings_Paediatric v0.2 | MYH7 | Zornitza Stark Added phenotypes Cardiomyopathy, dilated for gene: MYH7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH7 |
Zornitza Stark Source BabySeq Category B gene was added to MYH7. Source Expert Review Amber was added to MYH7. Added phenotypes Cardiomyopathy, familial hypertrophic for gene: MYH7 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | MYH11 |
Zornitza Stark gene: MYH11 was added gene: MYH11 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4 |
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| Additional findings_Paediatric v0.2 | MYBPC3 |
Zornitza Stark gene: MYBPC3 was added gene: MYBPC3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MYBPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, familial hypertrophic |
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| Additional findings_Paediatric v0.2 | MTHFR |
Zornitza Stark gene: MTHFR was added gene: MTHFR was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency |
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| Additional findings_Paediatric v0.2 | MCCC2 |
Zornitza Stark gene: MCCC2 was added gene: MCCC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency |
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| Additional findings_Paediatric v0.2 | MCCC1 |
Zornitza Stark gene: MCCC1 was added gene: MCCC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency |
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| Additional findings_Paediatric v0.2 | LMNA |
Zornitza Stark Source BabySeq Category B gene was added to LMNA. Source Expert Review Amber was added to LMNA. Mode of inheritance for gene LMNA was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dilated cardiomyopathy for gene: LMNA Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | JUP |
Zornitza Stark Source BabySeq Category B gene was added to JUP. Source Expert Review Amber was added to JUP. Mode of inheritance for gene JUP was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arrhythmogenic right ventricular dysplasia 12 for gene: JUP Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | DSP |
Zornitza Stark Source BabySeq Category B gene was added to DSP. Source Expert Review Amber was added to DSP. Added phenotypes Arrhythmogenic right ventricular dysplasia/cardiomyopathy for gene: DSP Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | DSG2 |
Zornitza Stark gene: DSG2 was added gene: DSG2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular cardiomyopathy |
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| Additional findings_Paediatric v0.2 | DSC2 |
Zornitza Stark gene: DSC2 was added gene: DSC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: DSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular cardiomyopathy |
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| Additional findings_Paediatric v0.2 | DMD |
Zornitza Stark Source BabySeq Category B gene was added to DMD. Source Expert Review Amber was added to DMD. Added phenotypes Cardiomyopathy, dilated for gene: DMD Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | DES |
Zornitza Stark Source BabySeq Category B gene was added to DES. Source Expert Review Amber was added to DES. Added phenotypes Cardiomyopathy, dilated for gene: DES Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | CSRP3 |
Zornitza Stark gene: CSRP3 was added gene: CSRP3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CSRP3 were set to Cardiomyopathy, familial hypertrophic, 12 |
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| Additional findings_Paediatric v0.2 | CRYAB |
Zornitza Stark Source BabySeq Category B gene was added to CRYAB. Source Expert Review Amber was added to CRYAB. Added phenotypes Cardiomyopathy, dilated for gene: CRYAB Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | BAG3 |
Zornitza Stark gene: BAG3 was added gene: BAG3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | ANKRD1 |
Zornitza Stark gene: ANKRD1 was added gene: ANKRD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: ANKRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD1 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | ACTN2 |
Zornitza Stark gene: ACTN2 was added gene: ACTN2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN2 were set to Cardiomyopathy, familial hypertrophic |
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| Additional findings_Paediatric v0.2 | ACTC1 | Zornitza Stark Added phenotypes Cardiomyopathy, familial hypertrophic for gene: ACTC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTC1 |
Zornitza Stark gene: ACTC1 was added gene: ACTC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated |
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| Additional findings_Paediatric v0.2 | ACTA2 |
Zornitza Stark gene: ACTA2 was added gene: ACTA2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic |
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| Additional findings_Paediatric v0.2 | ABCC9 |
Zornitza Stark Source BabySeq Category B gene was added to ABCC9. Source Expert Review Amber was added to ABCC9. Added phenotypes Cardiomyopathy, dilated for gene: ABCC9 Rating Changed from Green List (high evidence) to Amber List (moderate evidence) |
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| Additional findings_Paediatric v0.2 | ZMPSTE24 |
Zornitza Stark gene: ZMPSTE24 was added gene: ZMPSTE24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ZMPSTE24 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZMPSTE24 were set to Restrictive dermopathy |
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| Additional findings_Paediatric v0.2 | WDR62 |
Zornitza Stark gene: WDR62 was added gene: WDR62 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations |
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| Additional findings_Paediatric v0.2 | VPS33B |
Zornitza Stark gene: VPS33B was added gene: VPS33B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS33B were set to Arthrogryposis renal dysfunction cholestasis syndrome |
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| Additional findings_Paediatric v0.2 | VPS13A |
Zornitza Stark gene: VPS13A was added gene: VPS13A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS13A were set to Choreoacanthocytosis |
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| Additional findings_Paediatric v0.2 | VLDLR |
Zornitza Stark gene: VLDLR was added gene: VLDLR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 |
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| Additional findings_Paediatric v0.2 | VIPAS39 |
Zornitza Stark gene: VIPAS39 was added gene: VIPAS39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction and cholestasis |
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| Additional findings_Paediatric v0.2 | VCP |
Zornitza Stark gene: VCP was added gene: VCP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: VCP were set to Inclusion body myopathy with early-onset paget disease and frontotemporal dementia |
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| Additional findings_Paediatric v0.2 | UROS |
Zornitza Stark gene: UROS was added gene: UROS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic |
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| Additional findings_Paediatric v0.2 | UROD |
Zornitza Stark gene: UROD was added gene: UROD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: UROD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UROD were set to Porphyria, hepatoerythropoietic |
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| Additional findings_Paediatric v0.2 | UMOD |
Zornitza Stark gene: UMOD was added gene: UMOD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: UMOD were set to Nephropathy |
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| Additional findings_Paediatric v0.2 | TWIST1 |
Zornitza Stark gene: TWIST1 was added gene: TWIST1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TWIST1 were set to Saethre-Chotzen syndrome |
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| Additional findings_Paediatric v0.2 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related |
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| Additional findings_Paediatric v0.2 | TTPA |
Zornitza Stark gene: TTPA was added gene: TTPA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency |
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| Additional findings_Paediatric v0.2 | TTN |
Zornitza Stark gene: TTN was added gene: TTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTN were set to Centronuclear myopathy |
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| Additional findings_Paediatric v0.2 | TTC7A |
Zornitza Stark gene: TTC7A was added gene: TTC7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias |
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| Additional findings_Paediatric v0.2 | TSHR |
Zornitza Stark gene: TSHR was added gene: TSHR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TSHR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHR were set to Hypothyroidism |
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| Additional findings_Paediatric v0.2 | TSHB |
Zornitza Stark gene: TSHB was added gene: TSHB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4 |
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| Additional findings_Paediatric v0.2 | TPO |
Zornitza Stark gene: TPO was added gene: TPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A |
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| Additional findings_Paediatric v0.2 | TPM3 | Zornitza Stark Added phenotypes Congenital fiber-type disproportion myopathy for gene: TPM3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | TPM3 |
Zornitza Stark gene: TPM3 was added gene: TPM3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TPM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM3 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.2 | TPM2 | Zornitza Stark Added phenotypes Arthrogryposis multiplex congenita, distal for gene: TPM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | TPM2 |
Zornitza Stark gene: TPM2 was added gene: TPM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TPM2 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.2 | TNNT3 |
Zornitza Stark gene: TNNT3 was added gene: TNNT3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNT3 were set to Arthyrgryposis, distal |
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| Additional findings_Paediatric v0.2 | TNNT1 |
Zornitza Stark gene: TNNT1 was added gene: TNNT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TNNT1 were set to Nemaline myopathy, Amish type |
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| Additional findings_Paediatric v0.2 | TNNI2 |
Zornitza Stark gene: TNNI2 was added gene: TNNI2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TNNI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TNNI2 were set to Distal arthrogryposis syndrome 2b |
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| Additional findings_Paediatric v0.2 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 |
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| Additional findings_Paediatric v0.2 | THRB |
Zornitza Stark gene: THRB was added gene: THRB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: THRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRB were set to Thyroid hormone resistance |
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| Additional findings_Paediatric v0.2 | THRA |
Zornitza Stark gene: THRA was added gene: THRA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: THRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: THRA were set to Hypothyroidism, congenital, nongoitrous, 6 |
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| Additional findings_Paediatric v0.2 | TH |
Zornitza Stark gene: TH was added gene: TH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency |
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| Additional findings_Paediatric v0.2 | TGM1 |
Zornitza Stark gene: TGM1 was added gene: TGM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive |
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| Additional findings_Paediatric v0.2 | TG |
Zornitza Stark gene: TG was added gene: TG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3 |
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| Additional findings_Paediatric v0.2 | TFG |
Zornitza Stark gene: TFG was added gene: TFG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TFG were set to Hereditary motor and sensory neuropathy |
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| Additional findings_Paediatric v0.2 | TAZ |
Zornitza Stark gene: TAZ was added gene: TAZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to Barth syndrome |
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| Additional findings_Paediatric v0.2 | SUCLG1 |
Zornitza Stark gene: SUCLG1 was added gene: SUCLG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLG1 were set to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) |
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| Additional findings_Paediatric v0.2 | SUCLA2 |
Zornitza Stark gene: SUCLA2 was added gene: SUCLA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) |
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| Additional findings_Paediatric v0.2 | STXBP1 |
Zornitza Stark gene: STXBP1 was added gene: STXBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: STXBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STXBP1 were set to Epileptic encephalopathy, early infantile |
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| Additional findings_Paediatric v0.2 | STS |
Zornitza Stark gene: STS was added gene: STS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to Ichthyosis, X-linked |
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| Additional findings_Paediatric v0.2 | STRA6 |
Zornitza Stark gene: STRA6 was added gene: STRA6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic |
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| Additional findings_Paediatric v0.2 | SPTLC1 |
Zornitza Stark gene: SPTLC1 was added gene: SPTLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA |
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| Additional findings_Paediatric v0.2 | SPINK5 |
Zornitza Stark gene: SPINK5 was added gene: SPINK5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SPINK5 were set to Netherton syndrome 1; Netherton syndrome |
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| Additional findings_Paediatric v0.2 | SP110 |
Zornitza Stark gene: SP110 was added gene: SP110 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SP110 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP110 were set to Hepatic venoocclusive disease with immunodeficiency |
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| Additional findings_Paediatric v0.2 | SLCO2A1 |
Zornitza Stark gene: SLCO2A1 was added gene: SLCO2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLCO2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal recessive 2 |
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| Additional findings_Paediatric v0.2 | SLC5A5 |
Zornitza Stark gene: SLC5A5 was added gene: SLC5A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC5A5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC5A5 were set to Thyroid dyshormonogenesis 1 |
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| Additional findings_Paediatric v0.2 | SLC4A11 |
Zornitza Stark gene: SLC4A11 was added gene: SLC4A11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC4A11 were set to Corneal endothelial dystrophy |
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| Additional findings_Paediatric v0.2 | SLC39A4 |
Zornitza Stark gene: SLC39A4 was added gene: SLC39A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica |
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| Additional findings_Paediatric v0.2 | SLC34A3 |
Zornitza Stark gene: SLC34A3 was added gene: SLC34A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria |
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| Additional findings_Paediatric v0.2 | SLC34A2 |
Zornitza Stark gene: SLC34A2 was added gene: SLC34A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC34A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC34A2 were set to Pulmonary alveolar microlithiasis |
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| Additional findings_Paediatric v0.2 | SLC27A4 |
Zornitza Stark gene: SLC27A4 was added gene: SLC27A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC27A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC27A4 were set to Ichthyosis prematurity syndrome |
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| Additional findings_Paediatric v0.2 | SLC25A4 |
Zornitza Stark gene: SLC25A4 was added gene: SLC25A4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SLC25A4 were set to Progressive external ophthalmoplegia |
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| Additional findings_Paediatric v0.2 | SLC25A15 |
Zornitza Stark gene: SLC25A15 was added gene: SLC25A15 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome |
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| Additional findings_Paediatric v0.2 | SLC19A2 |
Zornitza Stark gene: SLC19A2 was added gene: SLC19A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome |
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| Additional findings_Paediatric v0.2 | SLC12A6 |
Zornitza Stark gene: SLC12A6 was added gene: SLC12A6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy |
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| Additional findings_Paediatric v0.2 | SH3TC2 |
Zornitza Stark gene: SH3TC2 was added gene: SH3TC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | SELENON |
Zornitza Stark gene: SELENON was added gene: SELENON was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion; Muscular dystrophy, rigid spine |
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| Additional findings_Paediatric v0.2 | SCO2 |
Zornitza Stark gene: SCO2 was added gene: SCO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency |
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| Additional findings_Paediatric v0.2 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR2 were set to Arrhythmogenic right ventricular dysplasia 2 |
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| Additional findings_Paediatric v0.2 | RYR1 |
Zornitza Stark Mode of inheritance for gene RYR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Centronuclear myopathy for gene: RYR1 |
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| Additional findings_Paediatric v0.2 | RECQL4 | Zornitza Stark Added phenotypes Rothmund-Thomson syndrome for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | RBM8A |
Zornitza Stark gene: RBM8A was added gene: RBM8A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to Thrombocytopaenia-absent radius syndrome |
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| Additional findings_Paediatric v0.2 | RAPSN |
Zornitza Stark gene: RAPSN was added gene: RAPSN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAPSN were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.2 | RAI1 |
Zornitza Stark gene: RAI1 was added gene: RAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RAI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAI1 were set to Smith-Magenis syndrome |
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| Additional findings_Paediatric v0.2 | RAB7A |
Zornitza Stark gene: RAB7A was added gene: RAB7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: RAB7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RAB7A were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | PTH1R |
Zornitza Stark gene: PTH1R was added gene: PTH1R was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PTH1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia |
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| Additional findings_Paediatric v0.2 | PRX |
Zornitza Stark gene: PRX was added gene: PRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PRX were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | PROC |
Zornitza Stark gene: PROC was added gene: PROC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency |
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| Additional findings_Paediatric v0.2 | POR |
Zornitza Stark gene: POR was added gene: POR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POR were set to Disordered steroidogenesis with and without Antley-Bixler syndrome |
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| Additional findings_Paediatric v0.2 | POMT2 |
Zornitza Stark gene: POMT2 was added gene: POMT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 |
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| Additional findings_Paediatric v0.2 | POMT1 |
Zornitza Stark gene: POMT1 was added gene: POMT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 |
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| Additional findings_Paediatric v0.2 | POMGNT1 | Zornitza Stark Added phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 for gene: POMGNT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | POMGNT1 |
Zornitza Stark gene: POMGNT1 was added gene: POMGNT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
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| Additional findings_Paediatric v0.2 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POLG were set to POLG-Related Ataxia Neuropathy Spectrum Disorders |
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| Additional findings_Paediatric v0.2 | PNPO |
Zornitza Stark gene: PNPO was added gene: PNPO was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal |
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| Additional findings_Paediatric v0.2 | PMP22 |
Zornitza Stark gene: PMP22 was added gene: PMP22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PMP22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PMP22 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | PIEZO2 |
Zornitza Stark gene: PIEZO2 was added gene: PIEZO2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PIEZO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, type 5 |
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| Additional findings_Paediatric v0.2 | PDE4D |
Zornitza Stark gene: PDE4D was added gene: PDE4D was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance |
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| Additional findings_Paediatric v0.2 | PAX8 |
Zornitza Stark gene: PAX8 was added gene: PAX8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia |
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| Additional findings_Paediatric v0.2 | PANK2 |
Zornitza Stark gene: PANK2 was added gene: PANK2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1 |
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| Additional findings_Paediatric v0.2 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency |
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| Additional findings_Paediatric v0.2 | OPA3 |
Zornitza Stark gene: OPA3 was added gene: OPA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III |
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| Additional findings_Paediatric v0.2 | NTRK1 |
Zornitza Stark gene: NTRK1 was added gene: NTRK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis |
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| Additional findings_Paediatric v0.2 | NPHP4 |
Zornitza Stark gene: NPHP4 was added gene: NPHP4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephronophthisis |
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| Additional findings_Paediatric v0.2 | NPHP3 |
Zornitza Stark gene: NPHP3 was added gene: NPHP3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Nephronophthisis |
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| Additional findings_Paediatric v0.2 | NPHP1 |
Zornitza Stark gene: NPHP1 was added gene: NPHP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Nephronophthisis |
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| Additional findings_Paediatric v0.2 | NOTCH3 |
Zornitza Stark gene: NOTCH3 was added gene: NOTCH3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
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| Additional findings_Paediatric v0.2 | NKX2-1 |
Zornitza Stark gene: NKX2-1 was added gene: NKX2-1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress |
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| Additional findings_Paediatric v0.2 | NIPAL4 |
Zornitza Stark gene: NIPAL4 was added gene: NIPAL4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive |
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| Additional findings_Paediatric v0.2 | NHEJ1 |
Zornitza Stark gene: NHEJ1 was added gene: NHEJ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation |
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| Additional findings_Paediatric v0.2 | NEFL |
Zornitza Stark gene: NEFL was added gene: NEFL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | NEB |
Zornitza Stark gene: NEB was added gene: NEB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NEB were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.2 | NAGS |
Zornitza Stark gene: NAGS was added gene: NAGS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency |
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| Additional findings_Paediatric v0.2 | MYH9 |
Zornitza Stark gene: MYH9 was added gene: MYH9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness |
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| Additional findings_Paediatric v0.2 | MYH7 | Zornitza Stark Added phenotypes Myopathy, myosin storage for gene: MYH7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | MYH7 |
Zornitza Stark gene: MYH7 was added gene: MYH7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH7 were set to Laing distal myopathy |
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| Additional findings_Paediatric v0.2 | MYH3 |
Zornitza Stark gene: MYH3 was added gene: MYH3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH3 were set to Arthrogryposis, distal |
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| Additional findings_Paediatric v0.2 | MYH2 |
Zornitza Stark gene: MYH2 was added gene: MYH2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia |
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| Additional findings_Paediatric v0.2 | MUT |
Zornitza Stark gene: MUT was added gene: MUT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type |
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| Additional findings_Paediatric v0.2 | MUSK |
Zornitza Stark gene: MUSK was added gene: MUSK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUSK were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.2 | MTRR |
Zornitza Stark gene: MTRR was added gene: MTRR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria |
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| Additional findings_Paediatric v0.2 | MTR |
Zornitza Stark gene: MTR was added gene: MTR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria |
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| Additional findings_Paediatric v0.2 | MTM1 |
Zornitza Stark gene: MTM1 was added gene: MTM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked |
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| Additional findings_Paediatric v0.2 | MPZ |
Zornitza Stark gene: MPZ was added gene: MPZ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | MPL |
Zornitza Stark gene: MPL was added gene: MPL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital |
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| Additional findings_Paediatric v0.2 | MMADHC |
Zornitza Stark gene: MMADHC was added gene: MMADHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type |
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| Additional findings_Paediatric v0.2 | MMACHC |
Zornitza Stark gene: MMACHC was added gene: MMACHC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type |
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| Additional findings_Paediatric v0.2 | MMAB |
Zornitza Stark gene: MMAB was added gene: MMAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type |
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| Additional findings_Paediatric v0.2 | MMAA |
Zornitza Stark gene: MMAA was added gene: MMAA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive |
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| Additional findings_Paediatric v0.2 | MLC1 |
Zornitza Stark gene: MLC1 was added gene: MLC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy |
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| Additional findings_Paediatric v0.2 | MFN2 |
Zornitza Stark gene: MFN2 was added gene: MFN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MFN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | MEGF10 |
Zornitza Stark gene: MEGF10 was added gene: MEGF10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset |
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| Additional findings_Paediatric v0.2 | MBTPS2 |
Zornitza Stark gene: MBTPS2 was added gene: MBTPS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to Ichthyosis follicularis, alopecia & photophobia |
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| Additional findings_Paediatric v0.2 | LRSAM1 |
Zornitza Stark gene: LRSAM1 was added gene: LRSAM1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LRSAM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | LMOD3 |
Zornitza Stark gene: LMOD3 was added gene: LMOD3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMOD3 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.2 | LMNA |
Zornitza Stark Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Charcot-Marie-Tooth disease for gene: LMNA |
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| Additional findings_Paediatric v0.2 | LMBRD1 |
Zornitza Stark gene: LMBRD1 was added gene: LMBRD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria |
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| Additional findings_Paediatric v0.2 | LITAF |
Zornitza Stark gene: LITAF was added gene: LITAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LITAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LITAF were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.2 | LIG4 |
Zornitza Stark gene: LIG4 was added gene: LIG4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIG4 were set to Severe combined immunodeficiency with sensitivity to ionizing radiation |
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| Additional findings_Paediatric v0.2 | KLHL41 |
Zornitza Stark gene: KLHL41 was added gene: KLHL41 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL41 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.2 | KLHL40 |
Zornitza Stark gene: KLHL40 was added gene: KLHL40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KLHL40 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.2 | KCNJ2 |
Zornitza Stark gene: KCNJ2 was added gene: KCNJ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ2 were set to Andersen cardiodysrhythmic periodic paralysis |
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| Additional findings_Paediatric v0.2 | KBTBD13 |
Zornitza Stark gene: KBTBD13 was added gene: KBTBD13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KBTBD13 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.2 | ITGB4 |
Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia |
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| Additional findings_Paediatric v0.2 | ISPD |
Zornitza Stark gene: ISPD was added gene: ISPD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 |
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| Additional findings_Paediatric v0.2 | INVS |
Zornitza Stark gene: INVS was added gene: INVS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INVS were set to Nephronophthisis 2 |
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| Additional findings_Paediatric v0.2 | IGSF1 |
Zornitza Stark gene: IGSF1 was added gene: IGSF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to Central hypothyroidism and testicular enlargement |
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| Additional findings_Paediatric v0.2 | IGHMBP2 |
Zornitza Stark gene: IGHMBP2 was added gene: IGHMBP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress |
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| Additional findings_Paediatric v0.2 | HSPB8 |
Zornitza Stark gene: HSPB8 was added gene: HSPB8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HSPB8 were set to Charcot-Marie-Tooth disease, axonal, type 2L |
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| Additional findings_Paediatric v0.2 | HSD17B3 |
Zornitza Stark gene: HSD17B3 was added gene: HSD17B3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HSD17B3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HSD17B3 were set to Pseudohermaphroditism, male, with gynecomastia |
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| Additional findings_Paediatric v0.2 | HMGCL |
Zornitza Stark gene: HMGCL was added gene: HMGCL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCL were set to 3-hydroxy-3-methylglutaric aciduria |
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| Additional findings_Paediatric v0.2 | HLCS |
Zornitza Stark gene: HLCS was added gene: HLCS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency |
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| Additional findings_Paediatric v0.2 | HINT1 |
Zornitza Stark gene: HINT1 was added gene: HINT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HINT1 were set to Axonal neuropathy with neuromyotonia |
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| Additional findings_Paediatric v0.2 | HBB |
Zornitza Stark gene: HBB was added gene: HBB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBB were set to Beta-thalassemia |
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| Additional findings_Paediatric v0.2 | HBA2 |
Zornitza Stark gene: HBA2 was added gene: HBA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HBA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA2 were set to Thalassemia, alpha |
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| Additional findings_Paediatric v0.2 | HBA1 |
Zornitza Stark gene: HBA1 was added gene: HBA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: HBA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HBA1 were set to Thalassaemia alpha |
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| Additional findings_Paediatric v0.2 | H19 |
Zornitza Stark gene: H19 was added gene: H19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: H19 was set to Unknown Phenotypes for gene: H19 were set to Beckwith-Wiedemann Syndrome |
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| Additional findings_Paediatric v0.2 | GSS |
Zornitza Stark gene: GSS was added gene: GSS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSS were set to Glutathione synthetase deficiency |
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| Additional findings_Paediatric v0.2 | GNE | Zornitza Stark Added phenotypes Inclusion body myopathy for gene: GNE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GNAS | Zornitza Stark Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GNAS | Zornitza Stark Added phenotypes Pseudohypoparathyroidism for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GLDC | Zornitza Stark Added phenotypes Glycine encephalopathy for gene: GLDC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GJB1 | Zornitza Stark Added phenotypes Charcot-Marie-Tooth neuropathy for gene: GJB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GFPT1 | Zornitza Stark Added phenotypes Congenital myasthenic syndrome, limb-girdle for gene: GFPT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GDAP1 | Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: GDAP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GATA1 | Zornitza Stark Added phenotypes Dyserythropoietic anemia with thrombocytopenia for gene: GATA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GAN | Zornitza Stark Added phenotypes Giant axonal neuropathy for gene: GAN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | GALK1 | Zornitza Stark Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FTL | Zornitza Stark Added phenotypes Neuroferritinopathy for gene: FTL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FOXF1 | Zornitza Stark Added phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins for gene: FOXF1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FKTN | Zornitza Stark Added phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies for gene: FKTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FGFR3 | Zornitza Stark Added phenotypes Thanatophoric dysplasia type 1 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FGFR3 | Zornitza Stark Added phenotypes Crouzon syndrome with acanthosis nigricans for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FGF3 | Zornitza Stark Added phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia for gene: FGF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FGD4 | Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: FGD4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | FAM58A | Zornitza Stark Added phenotypes Syndactyly - telecanthus - anogenital and renal malformations for gene: FAM58A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | F2 | Zornitza Stark Added phenotypes Prothrombin deficiency for gene: F2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ETHE1 | Zornitza Stark Added phenotypes Ethylmalonic encephalopathy for gene: ETHE1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | EGR2 | Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: EGR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | EFTUD2 | Zornitza Stark Added phenotypes Mandibulofacial dysostosis with microcephaly for gene: EFTUD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DUOX2 | Zornitza Stark Added phenotypes Thyroid dyshormonogenesis for gene: DUOX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DSP | Zornitza Stark Added phenotypes Epidermolysis bullosa, lethal acantholytic for gene: DSP | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DOK7 | Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: DOK7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DNM2 | Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2M for gene: DNM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DNM2 | Zornitza Stark Added phenotypes Myopathy, centronuclear for gene: DNM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DHCR7 | Zornitza Stark Added phenotypes Smith-Lemli-Opitz syndrome for gene: DHCR7 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DES | Zornitza Stark Added phenotypes Myopathy, myofibrillar for gene: DES | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | DCLRE1C | Zornitza Stark Added phenotypes Severe combined immunodeficiency, Athabascan type for gene: DCLRE1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CYP4F22 | Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: CYP4F22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CYP27A1 | Zornitza Stark Added phenotypes Cerebrotendinous xanthomatosis for gene: CYP27A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CYP11A1 | Zornitza Stark Added phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete for gene: CYP11A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CRYAB | Zornitza Stark Added phenotypes Myofibrillar myopathy for gene: CRYAB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CPS1 | Zornitza Stark Added phenotypes Carbamoylphosphate synthetase I deficiency for gene: CPS1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | COLQ | Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: COLQ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CLDN19 | Zornitza Stark Added phenotypes Hypomagnesemia 5, renal, with ocular involvement for gene: CLDN19 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CHRNE | Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRNE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CHRND | Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRND | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CHRNA1 | Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHRNA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CHAT | Zornitza Stark Added phenotypes Congenital myasthenic syndrome for gene: CHAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CFL2 | Zornitza Stark Added phenotypes Nemaline myopathy for gene: CFL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CDKN1C | Zornitza Stark Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CDKL5 | Zornitza Stark Added phenotypes Epileptic encephalopathy, early infantile, 2 for gene: CDKL5 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CDAN1 | Zornitza Stark Added phenotypes Anemia, congenital dyserythropoietic, type I for gene: CDAN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CD40LG | Zornitza Stark Added phenotypes Immunodeficiency, X-linked, with hyper-IgM for gene: CD40LG | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CBL | Zornitza Stark Added phenotypes Noonan syndrome-like disorder with or without juvenile meylomonocytic leukemia for gene: CBL | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CAV3 | Zornitza Stark Added phenotypes Caveolinopathy for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CASK | Zornitza Stark Added phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia for gene: CASK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | CA2 | Zornitza Stark Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis for gene: CA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | BSND | Zornitza Stark Added phenotypes Bartter syndrome with sensorineural deafness for gene: BSND | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | BIN1 | Zornitza Stark Added phenotypes Myopathy, centronuclear, autosomal recessive for gene: BIN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AUH | Zornitza Stark Added phenotypes 3-methylglutaconic aciduria, type I for gene: AUH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ATRX | Zornitza Stark Added phenotypes Alpha-thalassemia/mental retardation syndrome for gene: ATRX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ATP2A1 | Zornitza Stark Added phenotypes Brody myopathy for gene: ATP2A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ARFGEF2 | Zornitza Stark Added phenotypes Periventricular heterotopia with microcephaly for gene: ARFGEF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | APTX | Zornitza Stark Added phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia for gene: APTX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ANKRD26 | Zornitza Stark Added phenotypes Thrombocytopenia 2 for gene: ANKRD26 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ALOXE3 | Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOXE3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ALOX12B | Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ALOX12B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AKR1D1 | Zornitza Stark Added phenotypes Bile acid synthesis defect, congenital, 2 for gene: AKR1D1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AIRE | Zornitza Stark Added phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia for gene: AIRE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AGRN | Zornitza Stark Added phenotypes Myasthenia, limb-girdle, familial for gene: AGRN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ADK | Zornitza Stark Added phenotypes Hypermethioninemia due to adenosine kinase deficiency for gene: ADK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ADAMTS13 | Zornitza Stark Added phenotypes Thrombotic thrombocytopenic purpura, familial for gene: ADAMTS13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTN1 | Zornitza Stark Added phenotypes Macrothrombocytopenia for gene: ACTN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACTA1 | Zornitza Stark Added phenotypes Nemaline myopathy for gene: ACTA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACSF3 | Zornitza Stark Added phenotypes Combined malonic and methylmalonic aciduria for gene: ACSF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ACAT1 | Zornitza Stark Added phenotypes Alpha-methylacetoacetic aciduria for gene: ACAT1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ABCC6 | Zornitza Stark Added phenotypes Pseudoxanthoma elasticum for gene: ABCC6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ABCA12 | Zornitza Stark Added phenotypes Ichthyosis, congenital, autosomal recessive for gene: ABCA12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | AARS | Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: AARS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | GNE |
Zornitza Stark gene: GNE was added gene: GNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GNE were set to Inclusion body myopathy |
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| Additional findings_Paediatric v0.0 | GNAS | Zornitza Stark Added phenotypes Pseudopseudohypoparathyroidism for gene: GNAS | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | GNAS |
Zornitza Stark gene: GNAS was added gene: GNAS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GNAS was set to Unknown Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism |
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| Additional findings_Paediatric v0.0 | GLDC |
Zornitza Stark gene: GLDC was added gene: GLDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLDC were set to Glycine encephalopathy |
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| Additional findings_Paediatric v0.0 | GJB1 |
Zornitza Stark gene: GJB1 was added gene: GJB1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy |
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| Additional findings_Paediatric v0.0 | GFPT1 |
Zornitza Stark gene: GFPT1 was added gene: GFPT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Congenital myasthenic syndrome, limb-girdle |
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| Additional findings_Paediatric v0.0 | GDAP1 |
Zornitza Stark gene: GDAP1 was added gene: GDAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.0 | GATA1 |
Zornitza Stark gene: GATA1 was added gene: GATA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GATA1 were set to Dyserythropoietic anemia with thrombocytopenia |
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| Additional findings_Paediatric v0.0 | GAN |
Zornitza Stark gene: GAN was added gene: GAN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAN were set to Giant axonal neuropathy |
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| Additional findings_Paediatric v0.0 | GALK1 |
Zornitza Stark gene: GALK1 was added gene: GALK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts |
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| Additional findings_Paediatric v0.0 | FTL |
Zornitza Stark gene: FTL was added gene: FTL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FTL were set to Neuroferritinopathy |
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| Additional findings_Paediatric v0.0 | FOXF1 |
Zornitza Stark gene: FOXF1 was added gene: FOXF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FOXF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FOXF1 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins |
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| Additional findings_Paediatric v0.0 | FKTN | Zornitza Stark Added phenotypes Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies for gene: FKTN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | FGFR3 | Zornitza Stark Added phenotypes Thanatophoric dysplasia type 1 for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | FGFR3 | Zornitza Stark Added phenotypes Crouzon syndrome with acanthosis nigricans for gene: FGFR3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | FGF3 |
Zornitza Stark gene: FGF3 was added gene: FGF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FGF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGF3 were set to Deafness, congenital with inner ear agenesis, microtia, and microdontia |
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| Additional findings_Paediatric v0.0 | FGD4 |
Zornitza Stark gene: FGD4 was added gene: FGD4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.0 | FAM58A |
Zornitza Stark gene: FAM58A was added gene: FAM58A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: FAM58A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FAM58A were set to Syndactyly - telecanthus - anogenital and renal malformations |
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| Additional findings_Paediatric v0.0 | F2 |
Zornitza Stark gene: F2 was added gene: F2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: F2 were set to Prothrombin deficiency |
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| Additional findings_Paediatric v0.0 | ETHE1 |
Zornitza Stark gene: ETHE1 was added gene: ETHE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy |
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| Additional findings_Paediatric v0.0 | EGR2 |
Zornitza Stark gene: EGR2 was added gene: EGR2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EGR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EGR2 were set to Charcot-Marie-Tooth disease |
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| Additional findings_Paediatric v0.0 | EFTUD2 |
Zornitza Stark gene: EFTUD2 was added gene: EFTUD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis with microcephaly |
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| Additional findings_Paediatric v0.0 | DUOX2 |
Zornitza Stark gene: DUOX2 was added gene: DUOX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DUOX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DUOX2 were set to Thyroid dyshormonogenesis |
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| Additional findings_Paediatric v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DSP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DSP were set to Epidermolysis bullosa, lethal acantholytic |
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| Additional findings_Paediatric v0.0 | DOK7 |
Zornitza Stark gene: DOK7 was added gene: DOK7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DOK7 were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.0 | DNM2 | Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2M for gene: DNM2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | DNM2 |
Zornitza Stark gene: DNM2 was added gene: DNM2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DNM2 were set to Myopathy, centronuclear |
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| Additional findings_Paediatric v0.0 | DHCR7 |
Zornitza Stark gene: DHCR7 was added gene: DHCR7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome |
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| Additional findings_Paediatric v0.0 | DES |
Zornitza Stark gene: DES was added gene: DES was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DES were set to Myopathy, myofibrillar |
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| Additional findings_Paediatric v0.0 | DCLRE1C |
Zornitza Stark gene: DCLRE1C was added gene: DCLRE1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type |
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| Additional findings_Paediatric v0.0 | CYP4F22 |
Zornitza Stark gene: CYP4F22 was added gene: CYP4F22 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive |
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| Additional findings_Paediatric v0.0 | CYP27A1 |
Zornitza Stark gene: CYP27A1 was added gene: CYP27A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis |
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| Additional findings_Paediatric v0.0 | CYP11A1 |
Zornitza Stark gene: CYP11A1 was added gene: CYP11A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete |
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| Additional findings_Paediatric v0.0 | CRYAB |
Zornitza Stark gene: CRYAB was added gene: CRYAB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CRYAB were set to Myofibrillar myopathy |
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| Additional findings_Paediatric v0.0 | CPS1 |
Zornitza Stark gene: CPS1 was added gene: CPS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency |
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| Additional findings_Paediatric v0.0 | COLQ |
Zornitza Stark gene: COLQ was added gene: COLQ was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.0 | CLDN19 |
Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement |
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| Additional findings_Paediatric v0.0 | CHRNE |
Zornitza Stark gene: CHRNE was added gene: CHRNE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.0 | CHRND |
Zornitza Stark gene: CHRND was added gene: CHRND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.0 | CHRNA1 |
Zornitza Stark gene: CHRNA1 was added gene: CHRNA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA1 were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.0 | CHAT |
Zornitza Stark gene: CHAT was added gene: CHAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHAT were set to Congenital myasthenic syndrome |
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| Additional findings_Paediatric v0.0 | CFL2 |
Zornitza Stark gene: CFL2 was added gene: CFL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFL2 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.0 | CDKN1C |
Zornitza Stark gene: CDKN1C was added gene: CDKN1C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome |
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| Additional findings_Paediatric v0.0 | CDKL5 |
Zornitza Stark gene: CDKL5 was added gene: CDKL5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CDKL5 were set to Epileptic encephalopathy, early infantile, 2 |
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| Additional findings_Paediatric v0.0 | CDAN1 |
Zornitza Stark gene: CDAN1 was added gene: CDAN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CDAN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDAN1 were set to Anemia, congenital dyserythropoietic, type I |
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| Additional findings_Paediatric v0.0 | CD40LG |
Zornitza Stark gene: CD40LG was added gene: CD40LG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM |
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| Additional findings_Paediatric v0.0 | CBL |
Zornitza Stark gene: CBL was added gene: CBL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene 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 |
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| Additional findings_Paediatric v0.0 | CAV3 | Zornitza Stark Added phenotypes Caveolinopathy for gene: CAV3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.0 | CASK |
Zornitza Stark gene: CASK was added gene: CASK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CASK were set to Mental retardation and microcephaly with pontine and cerebellar hypoplasia |
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| Additional findings_Paediatric v0.0 | CA2 |
Zornitza Stark gene: CA2 was added gene: CA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis |
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| Additional findings_Paediatric v0.0 | BSND |
Zornitza Stark gene: BSND was added gene: BSND was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BSND were set to Bartter syndrome with sensorineural deafness |
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| Additional findings_Paediatric v0.0 | BIN1 |
Zornitza Stark gene: BIN1 was added gene: BIN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive |
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| Additional findings_Paediatric v0.0 | AUH |
Zornitza Stark gene: AUH was added gene: AUH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I |
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| Additional findings_Paediatric v0.0 | ATRX |
Zornitza Stark gene: ATRX was added gene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome |
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| Additional findings_Paediatric v0.0 | ATP2A1 |
Zornitza Stark gene: ATP2A1 was added gene: ATP2A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ATP2A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP2A1 were set to Brody myopathy |
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| Additional findings_Paediatric v0.0 | ARFGEF2 |
Zornitza Stark gene: ARFGEF2 was added gene: ARFGEF2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly |
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| Additional findings_Paediatric v0.0 | APTX |
Zornitza Stark gene: APTX was added gene: APTX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
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| Additional findings_Paediatric v0.0 | ANKRD26 |
Zornitza Stark gene: ANKRD26 was added gene: ANKRD26 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANKRD26 were set to Thrombocytopenia 2 |
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| Additional findings_Paediatric v0.0 | ALOXE3 |
Zornitza Stark gene: ALOXE3 was added gene: ALOXE3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive |
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| Additional findings_Paediatric v0.0 | ALOX12B |
Zornitza Stark gene: ALOX12B was added gene: ALOX12B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive |
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| Additional findings_Paediatric v0.0 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 |
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| Additional findings_Paediatric v0.0 | AIRE |
Zornitza Stark gene: AIRE was added gene: AIRE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia |
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| Additional findings_Paediatric v0.0 | AGRN |
Zornitza Stark gene: AGRN was added gene: AGRN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenia, limb-girdle, familial |
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| Additional findings_Paediatric v0.0 | ADK |
Zornitza Stark gene: ADK was added gene: ADK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ADK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADK were set to Hypermethioninemia due to adenosine kinase deficiency |
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| Additional findings_Paediatric v0.0 | ADAMTS13 |
Zornitza Stark gene: ADAMTS13 was added gene: ADAMTS13 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial |
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| Additional findings_Paediatric v0.0 | ACTN1 |
Zornitza Stark gene: ACTN1 was added gene: ACTN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTN1 were set to Macrothrombocytopenia |
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| Additional findings_Paediatric v0.0 | ACTA1 |
Zornitza Stark gene: ACTA1 was added gene: ACTA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA1 were set to Nemaline myopathy |
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| Additional findings_Paediatric v0.0 | ACSF3 |
Zornitza Stark gene: ACSF3 was added gene: ACSF3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria |
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| Additional findings_Paediatric v0.0 | ACAT1 |
Zornitza Stark gene: ACAT1 was added gene: ACAT1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria |
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| Additional findings_Paediatric v0.0 | ABCC6 |
Zornitza Stark gene: ABCC6 was added gene: ABCC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum |
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| Additional findings_Paediatric v0.0 | ABCA12 |
Zornitza Stark gene: ABCA12 was added gene: ABCA12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive |
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| Additional findings_Paediatric v0.0 | AARS |
Zornitza Stark gene: AARS was added gene: AARS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: AARS were set to Charcot-Marie-Tooth disease |
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