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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 v0.277 PLS1 Zornitza Stark Marked gene: PLS1 as ready
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Marked gene: KAT6B as ready
Additional findings_Paediatric v0.276 KAT6B Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome to SBBYSS syndrome MIM #603736; Genitopatellar syndrome MIM #606170
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 v0.274 APOB Zornitza Stark Marked gene: APOB as ready
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 v0.270 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
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 v0.264 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Additional findings_Paediatric v0.264 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from Pulmonary alveolar proteinosis to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
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 v0.261 EFHC1 Zornitza Stark Marked gene: EFHC1 as ready
Additional findings_Paediatric v0.258 H19 Zornitza Stark Marked gene: H19 as ready
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 Marked gene: SLC41A1 as ready
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 v0.250 TTC21B Zornitza Stark Marked gene: TTC21B as ready
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 NEK8 Zornitza Stark Marked gene: NEK8 as ready
Additional findings_Paediatric v0.244 CEP83 Zornitza Stark Marked gene: CEP83 as ready
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
Additional findings_Paediatric v0.242 SLCO2A1 Zornitza Stark Marked gene: SLCO2A1 as ready
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 v0.239 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 v0.239 WRAP53 Zornitza Stark Marked gene: WRAP53 as ready
Additional findings_Paediatric v0.236 KLF1 Zornitza Stark Marked gene: KLF1 as ready
Additional findings_Paediatric v0.233 MYBPC1 Zornitza Stark Marked gene: MYBPC1 as ready
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 v0.229 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 v0.229 PLG Zornitza Stark Marked gene: PLG as ready
Additional findings_Paediatric v0.229 PLG Zornitza Stark Phenotypes for gene: PLG were changed from Plasminogen deficiency to Hereditary angioedema-4 (HAE4), MIM#619360; Plasminogen deficiency, type I, MIM# 217090
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 v0.226 SHANK3 Zornitza Stark Marked gene: SHANK3 as ready
Additional findings_Paediatric v0.220 RETREG1 Zornitza Stark Marked gene: RETREG1 as ready
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 Marked gene: NEK1 as ready
Additional findings_Paediatric v0.214 MED25 Zornitza Stark Marked gene: MED25 as ready
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 v0.211 FBN2 Zornitza Stark Marked gene: FBN2 as ready
Additional findings_Paediatric v0.211 FBN2 Zornitza Stark Phenotypes for gene: FBN2 were changed from Contractural arachnodactyly to Contractural arachnodactyly, congenital MIM#121050
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 v0.207 AP4M1 Zornitza Stark Marked gene: AP4M1 as ready
Additional findings_Paediatric v0.207 AP4M1 Zornitza Stark Phenotypes for gene: AP4M1 were changed from Spastic paraplegia 50, autosomal recessive to Spastic paraplegia 50, autosomal recessive, MIM# 612936
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 v0.205 AP4B1 Zornitza Stark Marked gene: AP4B1 as ready
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
Additional findings_Paediatric v0.203 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
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
Additional findings_Paediatric v0.201 CDT1 Zornitza Stark Marked gene: CDT1 as ready
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Marked gene: CDK5RAP2 as ready
Additional findings_Paediatric v0.198 CDK5RAP2 Zornitza Stark Phenotypes for gene: CDK5RAP2 were changed from Microcephaly 3, primary, autosomal recessive to Microcephaly 3, primary, autosomal recessive, MIM# 604804; MONDO:0011488
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 v0.196 ITGA3 Zornitza Stark Marked gene: ITGA3 as ready
Additional findings_Paediatric v0.195 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Marked gene: NEUROG3 as ready
Additional findings_Paediatric v0.193 NEUROG3 Zornitza Stark Phenotypes for gene: NEUROG3 were changed from Diarrhea 4, malabsorptive, congenital to Diarrhoea 4, malabsorptive, congenital, MIM# 610370
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 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Additional findings_Paediatric v0.190 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from Warburg micro syndrome to Warburg micro syndrome 2, MIM# 614225
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 v0.187 MGAT2 Zornitza Stark Marked gene: MGAT2 as ready
Additional findings_Paediatric v0.184 PIGA Zornitza Stark Marked gene: PIGA as ready
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 MPDU1 Zornitza Stark Marked gene: MPDU1 as ready
Additional findings_Paediatric v0.178 DOLK Zornitza Stark Marked gene: DOLK as ready
Additional findings_Paediatric v0.175 COG5 Zornitza Stark Marked gene: COG5 as ready
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.172 KARS Zornitza Stark Marked gene: KARS as ready
Additional findings_Paediatric v0.172 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
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 v0.171 KARS Zornitza Stark Publications for gene: KARS were set to
Additional findings_Paediatric v0.170 KARS Zornitza Stark Classified gene: KARS as Green List (high evidence)
Additional findings_Paediatric v0.170 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.169 HOMER2 Zornitza Stark Marked gene: HOMER2 as ready
Additional findings_Paediatric v0.168 HGF Zornitza Stark Marked gene: HGF as ready
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.167 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from Perrault syndrome to Perrault syndrome; autosomal recessive sensorineural hearing loss
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Classified gene: HARS2 as Green List (high evidence)
Additional findings_Paediatric v0.166 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
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 v0.165 GRHL2 Zornitza Stark Marked gene: GRHL2 as ready
Additional findings_Paediatric v0.165 GRHL2 Zornitza Stark Phenotypes for gene: GRHL2 were changed from Hearing loss to Autosomal dominant hearing loss, MIM# 608641
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 HOMER2 Lilian Downie gene: HOMER2 was added
gene: HOMER2 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: HOMER2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMER2 were set to Autosomal dominant non syndromic deafness
Review for gene: HOMER2 was set to GREEN
Added comment: Moderate by ClinGen hearing loss expert committee. Isolated hearing impairment onset in first decade of life.
Sources: Expert list
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 v0.163 ALG9 Zornitza Stark Marked gene: ALG9 as ready
Additional findings_Paediatric v0.160 GATA3 Zornitza Stark Marked gene: GATA3 as ready
Additional findings_Paediatric v0.159 FOXI1 Zornitza Stark Marked gene: FOXI1 as ready
Additional findings_Paediatric v0.158 EPS8L2 Zornitza Stark Marked gene: EPS8L2 as ready
Additional findings_Paediatric v0.157 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Marked gene: EDNRB as ready
Additional findings_Paediatric v0.156 EDNRB Zornitza Stark Phenotypes for gene: EDNRB were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome, type 4A, MIM# 277580
Additional findings_Paediatric v0.153 COL9A2 Zornitza Stark Marked gene: COL9A2 as ready
Additional findings_Paediatric v0.151 COL9A1 Zornitza Stark Marked gene: COL9A1 as ready
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Marked gene: EDN3 as ready
Additional findings_Paediatric v0.149 EDN3 Zornitza Stark Phenotypes for gene: EDN3 were changed from Hirschsprung disease; Waardenburg syndrome to Waardenburg syndrome
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
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 v0.144 CCDC50 Zornitza Stark Marked gene: CCDC50 as ready
Additional findings_Paediatric v0.144 CCDC50 Zornitza Stark Phenotypes for gene: CCDC50 were changed from Hearing loss to childhood onset deafness, progressive
Additional findings_Paediatric v0.141 DMXL2 Zornitza Stark Marked gene: DMXL2 as ready
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
Additional findings_Paediatric v0.140 FOXI1 Lilian Downie gene: FOXI1 was added
gene: FOXI1 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXI1 were set to sensorineural deafness and distal renal tubular acidosis
Review for gene: FOXI1 was set to GREEN
Added comment: Sources: Expert list
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 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 COL9A3 Zornitza Stark Marked gene: COL9A3 as ready
Additional findings_Paediatric v0.139 CEP78 Zornitza Stark Marked gene: CEP78 as ready
Additional findings_Paediatric v0.138 CDC14A Zornitza Stark Marked gene: CDC14A as ready
Additional findings_Paediatric v0.137 CABP2 Zornitza Stark Marked gene: CABP2 as ready
Additional findings_Paediatric v0.136 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Additional findings_Paediatric v0.135 ADGRV1 Zornitza Stark Marked gene: ADGRV1 as ready
Additional findings_Paediatric v0.134 CEP78 Lilian Downie gene: CEP78 was added
gene: CEP78 was added to Additional findings_Paediatric. Sources: Expert list
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss
Review for gene: CEP78 was set to GREEN
Added comment: Sources: Expert list
Additional findings_Paediatric v0.134 STAC3 Zornitza Stark Marked gene: STAC3 as ready
Additional findings_Paediatric v0.131 SPEG Zornitza Stark Marked gene: SPEG as ready
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 v0.124 HSD3B2 Zornitza Stark Marked gene: HSD3B2 as ready
Additional findings_Paediatric v0.123 IL7R Zornitza Stark Marked gene: IL7R as ready
Additional findings_Paediatric v0.122 HNF4A Zornitza Stark Marked gene: HNF4A as ready
Additional findings_Paediatric v0.121 GABRG2 Zornitza Stark Marked gene: GABRG2 as ready
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 v0.117 FH Zornitza Stark Marked gene: FH as ready
Additional findings_Paediatric v0.117 FH Zornitza Stark Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer; Fumarase deficiency to Fumurase deficiency MIM# 606812
Additional findings_Paediatric v0.114 FGFR3 Zornitza Stark Marked gene: FGFR3 as ready
Additional findings_Paediatric v0.113 FBP1 Zornitza Stark Marked gene: FBP1 as ready
Additional findings_Paediatric v0.112 FBN1 Zornitza Stark Marked gene: FBN1 as ready
Additional findings_Paediatric v0.111 F7 Zornitza Stark Marked gene: F7 as ready
Additional findings_Paediatric v0.110 F5 Zornitza Stark Marked gene: F5 as ready
Additional findings_Paediatric v0.107 F13B Zornitza Stark Marked gene: F13B as ready
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
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
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
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
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 v0.106 HADH Zornitza Stark Marked gene: HADH as ready
Additional findings_Paediatric v0.104 GIF Zornitza Stark Marked gene: GIF as ready
Additional findings_Paediatric v0.103 GGCX Zornitza Stark Marked gene: GGCX as ready
Additional findings_Paediatric v0.102 GATA2 Zornitza Stark Marked gene: GATA2 as ready
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
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
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
Additional findings_Paediatric v0.101 WHRN Zornitza Stark Marked gene: WHRN as ready
Additional findings_Paediatric v0.101 WHRN Zornitza Stark Phenotypes for gene: WHRN were changed from Hearing loss to Usher syndrome, type 2D, MIM# 611383; Deafness, autosomal recessive 31, MIM# 607084
Additional findings_Paediatric v0.98 RDX Zornitza Stark Marked gene: RDX as ready
Additional findings_Paediatric v0.95 GRXCR1 Zornitza Stark Marked gene: GRXCR1 as ready
Additional findings_Paediatric v0.92 COCH Zornitza Stark Marked gene: COCH as ready
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Marked gene: ESPN as ready
Additional findings_Paediatric v0.89 ESPN Zornitza Stark Phenotypes for gene: ESPN were changed from Hearing loss to Deafness, autosomal recessive 36, MIM# 609006
Additional findings_Paediatric v0.86 CLPP Zornitza Stark Marked gene: CLPP as ready
Additional findings_Paediatric v0.83 CIB2 Zornitza Stark Marked gene: CIB2 as ready
Additional findings_Paediatric v0.81 F13A1 Zornitza Stark Marked gene: F13A1 as ready
Additional findings_Paediatric v0.79 F10 Zornitza Stark Marked gene: F10 as ready
Additional findings_Paediatric v0.77 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Additional findings_Paediatric v0.75 IYD Zornitza Stark Marked gene: IYD as ready
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 v0.72 IRF6 Zornitza Stark Marked gene: IRF6 as ready
Additional findings_Paediatric v0.70 INS Zornitza Stark Marked gene: INS as ready
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
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Marked gene: KRIT1 as ready
Additional findings_Paediatric v0.69 KRIT1 Zornitza Stark Added comment: Comment when marking as ready: Agree, potentially actionable in childhood.
Additional findings_Paediatric v0.68 MYH7 Zornitza Stark Marked gene: MYH7 as ready
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 Marked gene: NTRK1 as ready
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 DCX Zornitza Stark Marked gene: DCX as ready
Additional findings_Paediatric v0.61 COL1A1 Zornitza Stark Marked gene: COL1A1 as ready
Additional findings_Paediatric v0.59 CLCN7 Zornitza Stark Marked gene: CLCN7 as ready
Additional findings_Paediatric v0.56 CLCN1 Zornitza Stark Marked gene: CLCN1 as ready
Additional findings_Paediatric v0.54 CD3D Zornitza Stark Marked gene: CD3D as ready
Additional findings_Paediatric v0.52 CAV3 Zornitza Stark Marked gene: CAV3 as ready
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 v0.49 CARD11 Zornitza Stark Marked gene: CARD11 as ready
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Classified gene: CARD11 as Green List (high evidence)
Additional findings_Paediatric v0.49 CARD11 Zornitza Stark Gene: card11 has been classified as Green List (High Evidence).
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
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
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 BSCL2 Zornitza Stark Marked gene: BSCL2 as ready
Additional findings_Paediatric v0.47 BSCL2 Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome; Berardinelli-Seip lipodystrophy to Berardinelli-Seip lipodystrophy; Lipodystrophy, congenital generalized, type 2, MIM# 269700
Additional findings_Paediatric v0.44 PALB2 Zornitza Stark Marked gene: PALB2 as ready
Additional findings_Paediatric v0.40 P2RY12 Zornitza Stark Marked gene: P2RY12 as ready
Additional findings_Paediatric v0.39 PDX1 Zornitza Stark Marked gene: PDX1 as ready
Additional findings_Paediatric v0.38 PIK3CD Zornitza Stark Marked gene: PIK3CD as ready
Additional findings_Paediatric v0.37 PTPRC Zornitza Stark Marked gene: PTPRC as ready
Additional findings_Paediatric v0.36 RYR1 Zornitza Stark Marked gene: RYR1 as ready
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 v0.33 SCNN1B Zornitza Stark Marked gene: SCNN1B as ready
Additional findings_Paediatric v0.30 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Additional findings_Paediatric v0.28 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from Interstitial lung disease to Surfactant metabolism dysfunction, pulmonary, 2 MIM# 178620; Interstitial lung disease
Additional findings_Paediatric v0.26 SGCD Zornitza Stark Marked gene: SGCD as ready
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 v0.24 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Additional findings_Paediatric v0.24 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from Hartnup disorder to Hartnup disorder, MIM # 234500
Additional findings_Paediatric v0.22 PYGM Zornitza Stark Marked gene: PYGM as ready
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
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
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
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
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 v0.20 BRAF Zornitza Stark Marked gene: BRAF as ready
Additional findings_Paediatric v0.20 BRAF Zornitza Stark Phenotypes for gene: BRAF were changed from LEOPARD syndrome; Cardiofaciocutaneous syndrome to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150
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 v0.18 BMPR1A Zornitza Stark Marked gene: BMPR1A as ready
Additional findings_Paediatric v0.16 BCHE Zornitza Stark Marked gene: BCHE as ready
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
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Marked gene: ATP7A as ready
Additional findings_Paediatric v0.14 ATP7A Zornitza Stark Phenotypes for gene: ATP7A were changed from Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3; Menkes syndrome to Menkes disease, MIM# 309400
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 v0.12 AR Zornitza Stark Marked gene: AR as ready
Additional findings_Paediatric v0.12 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.12 AR Zornitza Stark Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity to Androgen insensitivity, MIM# 300068
Additional findings_Paediatric v0.11 AR Zornitza Stark Classified gene: AR as Green List (high evidence)
Additional findings_Paediatric v0.11 AR Zornitza Stark Gene: ar has been classified as Green List (High Evidence).
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 v0.10 APRT Zornitza Stark Marked gene: APRT as ready
Additional findings_Paediatric v0.8 ALDH7A1 Zornitza Stark Marked gene: ALDH7A1 as ready
Additional findings_Paediatric v0.6 ACADS Zornitza Stark Marked gene: ACADS as ready
Additional findings_Paediatric v0.5 ABCC2 Zornitza Stark Marked gene: ABCC2 as ready
Additional findings_Paediatric v0.2 ZNF674 Zornitza Stark gene: ZNF674 was added
gene: ZNF674 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ZNF674 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ZNF674 were set to Mental retardation
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
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
Additional findings_Paediatric v0.2 UGT1A4 Zornitza Stark gene: UGT1A4 was added
gene: UGT1A4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UGT1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A4 were set to Crigler-Najjar syndrome
Additional findings_Paediatric v0.2 UBA1 Zornitza Stark gene: UBA1 was added
gene: UBA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked infantile
Additional findings_Paediatric v0.2 TTC21B Zornitza Stark gene: TTC21B was added
gene: TTC21B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.2 TSPEAR Zornitza Stark gene: TSPEAR was added
gene: TSPEAR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TSPEAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSPEAR were set to Sensorineural deafness
Additional findings_Paediatric v0.2 TRPM2 Zornitza Stark gene: TRPM2 was added
gene: TRPM2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TRPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM2 were set to ALS and Parkinson's disease
Additional findings_Paediatric v0.2 TRDN Zornitza Stark gene: TRDN was added
gene: TRDN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Catecholaminergic polymorphic ventricular tachycardia
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
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
Additional findings_Paediatric v0.2 TGFBR3 Zornitza Stark gene: TGFBR3 was added
gene: TGFBR3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TGFBR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGFBR3 were set to Premature ovarian failure
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
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)
Additional findings_Paediatric v0.2 TBX20 Zornitza Stark gene: TBX20 was added
gene: TBX20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TBX20 were set to Congenital heart disease
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
Additional findings_Paediatric v0.2 TARDBP Zornitza Stark gene: TARDBP was added
gene: TARDBP was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis type 10
Additional findings_Paediatric v0.2 TAB2 Zornitza Stark gene: TAB2 was added
gene: TAB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TAB2 were set to Congenital heart disease, nonsyndromic
Additional findings_Paediatric v0.2 SYT14 Zornitza Stark gene: SYT14 was added
gene: SYT14 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellar ataxia, autosomal recessive 11
Additional findings_Paediatric v0.2 SYNE4 Zornitza Stark gene: SYNE4 was added
gene: SYNE4 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SYNE4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE4 were set to Hearing loss
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
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
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
Additional findings_Paediatric v0.2 SMAD9 Zornitza Stark gene: SMAD9 was added
gene: SMAD9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD9 were set to Pulmonary arterial hypertension
Additional findings_Paediatric v0.2 SMAD6 Zornitza Stark gene: SMAD6 was added
gene: SMAD6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD6 were set to Cardiovascular malformation, congenital
Additional findings_Paediatric v0.2 SMAD1 Zornitza Stark gene: SMAD1 was added
gene: SMAD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SMAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMAD1 were set to Pulmonary arterial hypertension
Additional findings_Paediatric v0.2 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC6A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A19 were set to Hartnup disorder
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
Additional findings_Paediatric v0.2 SLC4A10 Zornitza Stark gene: SLC4A10 was added
gene: SLC4A10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC4A10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC4A10 were set to Epilepsy & mental retardation
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
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
Additional findings_Paediatric v0.2 SLC33A1 Zornitza Stark Mode of inheritance for gene SLC33A1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spastic paraplegia, autosomal dominant for gene: SLC33A1
Additional findings_Paediatric v0.2 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss and low serum copper and ceruloplasmin
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
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
Additional findings_Paediatric v0.2 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SLC16A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency
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)
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
Additional findings_Paediatric v0.2 SERPIND1 Zornitza Stark gene: SERPIND1 was added
gene: SERPIND1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SERPIND1 were set to Heparin cofactor 2 deficiency
Additional findings_Paediatric v0.2 SCO1 Zornitza Stark gene: SCO1 was added
gene: SCO1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: SCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO1 were set to Hepatic failure, early onset, and neurologic disorder
Additional findings_Paediatric v0.2 SCN4A Zornitza Stark Source BabySeq Category C gene was added to SCN4A.
Source Expert Review Red was added to SCN4A.
Added phenotypes Hypokalemic periodic paralysis, type 2 for gene: SCN4A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 RAD51B Zornitza Stark gene: RAD51B was added
gene: RAD51B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RAD51B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAD51B were set to Breast and/or ovarian cancer
Additional findings_Paediatric v0.2 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome
Additional findings_Paediatric v0.2 RAB10 Zornitza Stark gene: RAB10 was added
gene: RAB10 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: RAB10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RAB10 were set to Congenital heart disease
Additional findings_Paediatric v0.2 PRPS1 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: PRPS1
Additional findings_Paediatric v0.2 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome
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)
Additional findings_Paediatric v0.2 PRDM16 Zornitza Stark gene: PRDM16 was added
gene: PRDM16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction
Additional findings_Paediatric v0.2 PPOX Zornitza Stark gene: PPOX was added
gene: PPOX was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PPOX were set to Porphyria variegata
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)
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
Additional findings_Paediatric v0.2 PHOX2A Zornitza Stark gene: PHOX2A was added
gene: PHOX2A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PHOX2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PHOX2A were set to Fibrosis of extraocular muscles, congenital
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
Additional findings_Paediatric v0.2 PABPN1 Zornitza Stark gene: PABPN1 was added
gene: PABPN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: PABPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PABPN1 were set to Oculopharyngeal muscular dystrophy
Additional findings_Paediatric v0.2 P2RX2 Zornitza Stark gene: P2RX2 was added
gene: P2RX2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: P2RX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: P2RX2 were set to Hearing loss
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)
Additional findings_Paediatric v0.2 NUB1 Zornitza Stark gene: NUB1 was added
gene: NUB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NUB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NUB1 were set to Congenital heart disease
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)
Additional findings_Paediatric v0.2 NME8 Zornitza Stark gene: NME8 was added
gene: NME8 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NME8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NME8 were set to Ciliary dyskinesia, primary
Additional findings_Paediatric v0.2 NFATC1 Zornitza Stark gene: NFATC1 was added
gene: NFATC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFATC1 were set to Congenital heart disease
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
Additional findings_Paediatric v0.2 NEUROG3 Zornitza Stark gene: NEUROG3 was added
gene: NEUROG3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEUROG3 were set to Diarrhea 4, malabsorptive, congenital
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
Additional findings_Paediatric v0.2 NAA15 Zornitza Stark gene: NAA15 was added
gene: NAA15 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: NAA15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NAA15 were set to Congenital heart disease
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
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
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
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
Additional findings_Paediatric v0.2 MYO1F Zornitza Stark gene: MYO1F was added
gene: MYO1F was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYO1F was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1F were set to Sensorineural hearing loss
Additional findings_Paediatric v0.2 MYO1C Zornitza Stark gene: MYO1C was added
gene: MYO1C was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MYO1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO1C were set to Sensorineural hearing loss
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
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)
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
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
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
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
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
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
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
Additional findings_Paediatric v0.2 MIR96 Zornitza Stark gene: MIR96 was added
gene: MIR96 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MIR96 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIR96 were set to Hearing loss
Additional findings_Paediatric v0.2 MIB1 Zornitza Stark gene: MIB1 was added
gene: MIB1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MIB1 were set to Left ventricular noncompaction
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
Additional findings_Paediatric v0.2 MED20 Zornitza Stark gene: MED20 was added
gene: MED20 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MED20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED20 were set to Congenital heart disease
Additional findings_Paediatric v0.2 MED13L Zornitza Stark gene: MED13L was added
gene: MED13L was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MED13L were set to Transposition of great arteries
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
Additional findings_Paediatric v0.2 LRRK2 Zornitza Stark gene: LRRK2 was added
gene: LRRK2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LRRK2 were set to Parkinson disease
Additional findings_Paediatric v0.2 LMNB2 Zornitza Stark gene: LMNB2 was added
gene: LMNB2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNB2 were set to Lipodystrophy, partial
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
Additional findings_Paediatric v0.2 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome
Additional findings_Paediatric v0.2 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome
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
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
Additional findings_Paediatric v0.2 KDM5B Zornitza Stark gene: KDM5B was added
gene: KDM5B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KDM5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KDM5B were set to Congenital heart disease
Additional findings_Paediatric v0.2 KCNJ18 Zornitza Stark gene: KCNJ18 was added
gene: KCNJ18 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: KCNJ18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNJ18 were set to Hypokalaemic periodic paralysis
Additional findings_Paediatric v0.2 KARS Zornitza Stark Added phenotypes Hearing loss for gene: KARS
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
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
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
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
Additional findings_Paediatric v0.2 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 HOMEZ Zornitza Stark gene: HOMEZ was added
gene: HOMEZ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HOMEZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HOMEZ were set to Congenital heart disease
Additional findings_Paediatric v0.2 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Pituitary hypoplasia
Additional findings_Paediatric v0.2 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 HAS2 Zornitza Stark gene: HAS2 was added
gene: HAS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HAS2 were set to Congenital heart disease
Additional findings_Paediatric v0.2 HARS2 Zornitza Stark gene: HARS2 was added
gene: HARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS2 were set to Perrault syndrome
Additional findings_Paediatric v0.2 HARS Zornitza Stark gene: HARS was added
gene: HARS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: HARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HARS were set to Usher syndrome type 3B
Additional findings_Paediatric v0.2 GRHL2 Zornitza Stark gene: GRHL2 was added
gene: GRHL2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GRHL2 were set to Hearing loss
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
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
Additional findings_Paediatric v0.2 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: GDF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDF1 were set to Congenital heart defects
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
Additional findings_Paediatric v0.2 FOXH1 Zornitza Stark gene: FOXH1 was added
gene: FOXH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: FOXH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXH1 were set to Congenital heart defects
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
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
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
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
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)
Additional findings_Paediatric v0.2 FBN1 Zornitza Stark Source BabySeq Category C gene was added to FBN1.
Source Expert Review Red was added to FBN1.
Added phenotypes Weill-Marchesani syndrome 2, dominant for gene: FBN1
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 FBLN5 Zornitza Stark Source BabySeq Category C gene was added to FBLN5.
Source Expert Review Red was added to FBLN5.
Mode of inheritance for gene FBLN5 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Age-related macular degeneration for gene: FBLN5
Rating Changed from Green List (high evidence) to Red List (low evidence)
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
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
Additional findings_Paediatric v0.2 ESPN Zornitza Stark gene: ESPN was added
gene: ESPN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ESPN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESPN were set to Hearing loss
Additional findings_Paediatric v0.2 EDNRB Zornitza Stark Added phenotypes Waardenburg syndrome for gene: EDNRB
Additional findings_Paediatric v0.2 EDN3 Zornitza Stark Added phenotypes Waardenburg syndrome for gene: EDN3
Additional findings_Paediatric v0.2 DTNA Zornitza Stark gene: DTNA was added
gene: DTNA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DTNA were set to Left ventricular noncompaction 1
Additional findings_Paediatric v0.2 DPP6 Zornitza Stark gene: DPP6 was added
gene: DPP6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DPP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DPP6 were set to Ventricular fibrillation, paroxysmal familial, 2
Additional findings_Paediatric v0.2 DNAL1 Zornitza Stark gene: DNAL1 was added
gene: DNAL1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAL1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DNAAF2 Zornitza Stark gene: DNAAF2 was added
gene: DNAAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF2 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 DLC1 Zornitza Stark gene: DLC1 was added
gene: DLC1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DLC1 were set to Congenital heart disease
Additional findings_Paediatric v0.2 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIAPH1 were set to Hearing loss
Additional findings_Paediatric v0.2 WHRN Zornitza Stark gene: WHRN was added
gene: WHRN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WHRN were set to Hearing loss
Additional findings_Paediatric v0.2 DDHD1 Zornitza Stark gene: DDHD1 was added
gene: DDHD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD1 were set to Spastic paraplegia
Additional findings_Paediatric v0.2 DAPK3 Zornitza Stark gene: DAPK3 was added
gene: DAPK3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DAPK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DAPK3 were set to Congenital heart disease
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
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
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
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)
Additional findings_Paediatric v0.2 CSF2RB Zornitza Stark gene: CSF2RB was added
gene: CSF2RB was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CSF2RB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSF2RB were set to Pulmonary alveolar proteinosis
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
Additional findings_Paediatric v0.2 CRELD1 Zornitza Stark gene: CRELD1 was added
gene: CRELD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CRELD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CRELD1 were set to Cardiac atrioventricular septal defect
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
Additional findings_Paediatric v0.2 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1
Additional findings_Paediatric v0.2 CITED2 Zornitza Stark gene: CITED2 was added
gene: CITED2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CITED2 were set to Congenital heart defects
Additional findings_Paediatric v0.2 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Larsen syndrome
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
Additional findings_Paediatric v0.2 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Primary microcephaly
Additional findings_Paediatric v0.2 CEACAM16 Zornitza Stark gene: CEACAM16 was added
gene: CEACAM16 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CEACAM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CEACAM16 were set to Hearing loss, autosomal dominant
Additional findings_Paediatric v0.2 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive
Additional findings_Paediatric v0.2 CCDC50 Zornitza Stark gene: CCDC50 was added
gene: CCDC50 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CCDC50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC50 were set to Hearing loss
Additional findings_Paediatric v0.2 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Primary ciliary dyskinesia
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)
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
Additional findings_Paediatric v0.2 BVES Zornitza Stark gene: BVES was added
gene: BVES was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BVES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BVES were set to Congenital heart disease
Additional findings_Paediatric v0.2 BSCL2 Zornitza Stark Source BabySeq Category C gene was added to BSCL2.
Source Expert Review Red was added to BSCL2.
Mode of inheritance for gene BSCL2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Silver spastic paraplegia syndrome for gene: BSCL2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 BRCA2 Zornitza Stark Source BabySeq Category C gene was added to BRCA2.
Source Expert Review Red was added to BRCA2.
Mode of inheritance for gene BRCA2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Breast-ovarian cancer, familial, 2 for gene: BRCA2
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 BRCA1 Zornitza Stark gene: BRCA1 was added
gene: BRCA1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1
Additional findings_Paediatric v0.2 BRAF Zornitza Stark Source BabySeq Category C gene was added to BRAF.
Source Expert Review Red was added to BRAF.
Added phenotypes LEOPARD syndrome for gene: BRAF
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 BNC2 Zornitza Stark gene: BNC2 was added
gene: BNC2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to Total anomalous pulmonary venous return
Additional findings_Paediatric v0.2 BCL9 Zornitza Stark gene: BCL9 was added
gene: BCL9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BCL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BCL9 were set to Congenital heart disease
Additional findings_Paediatric v0.2 BARD1 Zornitza Stark gene: BARD1 was added
gene: BARD1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: BARD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BARD1 were set to Tetralogy of Fallot
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)
Additional findings_Paediatric v0.2 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
Additional findings_Paediatric v0.2 ATP7A Zornitza Stark Source BabySeq Category C gene was added to ATP7A.
Source Expert Review Red was added to ATP7A.
Added phenotypes Spinal muscular atrophy, distal, X-linked 3 for gene: ATP7A
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 ATP1A3 Zornitza Stark gene: ATP1A3 was added
gene: ATP1A3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATP1A3 were set to Rapid-onset dystonia-parkinsonism
Additional findings_Paediatric v0.2 ARSE Zornitza Stark gene: ARSE was added
gene: ARSE was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARSE were set to Chondrodysplasia punctata, X-linked recessive
Additional findings_Paediatric v0.2 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome
Additional findings_Paediatric v0.2 ARID1A Zornitza Stark gene: ARID1A was added
gene: ARID1A was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome
Additional findings_Paediatric v0.2 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Hyperekplexia and epilepsy
Additional findings_Paediatric v0.2 ARHGAP31 Zornitza Stark gene: ARHGAP31 was added
gene: ARHGAP31 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARHGAP31 were set to Syndromic cutis aplasia & limb anomalies
Additional findings_Paediatric v0.2 AR Zornitza Stark Source BabySeq Category C gene was added to AR.
Source Expert Review Red was added to AR.
Added phenotypes Spinal and bulbar muscular atrophy of Kennedy for gene: AR
Rating Changed from Green List (high evidence) to Red List (low evidence)
Additional findings_Paediatric v0.2 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive
Additional findings_Paediatric v0.2 AP1S3 Zornitza Stark gene: AP1S3 was added
gene: AP1S3 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AP1S3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AP1S3 were set to Pustular psoriasis
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)
Additional findings_Paediatric v0.2 AGTR1 Zornitza Stark gene: AGTR1 was added
gene: AGTR1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.2 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis
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)
Additional findings_Paediatric v0.2 ACTC1 Zornitza Stark Added phenotypes Left ventricular noncompaction for gene: ACTC1
Additional findings_Paediatric v0.2 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Cerebellar-retinal degeneration, infantile
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
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
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)
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
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
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
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
Additional findings_Paediatric v0.2 SDHC Zornitza Stark gene: SDHC was added
gene: SDHC was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHC were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Additional findings_Paediatric v0.2 SDHB Zornitza Stark gene: SDHB was added
gene: SDHB was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHB were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
Additional findings_Paediatric v0.2 SDHAF2 Zornitza Stark gene: SDHAF2 was added
gene: SDHAF2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHAF2 were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
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
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)
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
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
Additional findings_Paediatric v0.2 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NKX2-5 were set to Congenital heart disease
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
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
Additional findings_Paediatric v0.2 MYH7 Zornitza Stark Added phenotypes Left ventricular noncompaction for gene: MYH7
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)
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
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
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
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)
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)
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)
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
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
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)
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)
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
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)
Additional findings_Paediatric v0.2 BMPR2 Zornitza Stark gene: BMPR2 was added
gene: BMPR2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary
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
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
Additional findings_Paediatric v0.2 AIP Zornitza Stark gene: AIP was added
gene: AIP was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AIP were set to Pituitary adenoma
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
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
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)
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
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
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
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
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
Additional findings_Paediatric v0.2 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome
Additional findings_Paediatric v0.2 UBR1 Zornitza Stark gene: UBR1 was added
gene: UBR1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome
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
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
Additional findings_Paediatric v0.2 TSEN54 Zornitza Stark gene: TSEN54 was added
gene: TSEN54 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 4
Additional findings_Paediatric v0.2 TRPM4 Zornitza Stark gene: TRPM4 was added
gene: TRPM4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPM4 were set to Cardiac conduction disease
Additional findings_Paediatric v0.2 TRIM32 Zornitza Stark gene: TRIM32 was added
gene: TRIM32 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H
Additional findings_Paediatric v0.2 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1
Additional findings_Paediatric v0.2 TRAPPC2 Zornitza Stark gene: TRAPPC2 was added
gene: TRAPPC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TRAPPC2 were set to Spondyloepiphyseal dysplasia tarda
Additional findings_Paediatric v0.2 TPM2 Zornitza Stark Added phenotypes Arthrogryposis multiplex congenita, distal for gene: TPM2
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
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
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
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
Additional findings_Paediatric v0.2 TFAP2B Zornitza Stark gene: TFAP2B was added
gene: TFAP2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TFAP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TFAP2B were set to Char syndrome
Additional findings_Paediatric v0.2 TCAP Zornitza Stark gene: TCAP was added
gene: TCAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TCAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, type 2G
Additional findings_Paediatric v0.2 TBC1D24 Zornitza Stark gene: TBC1D24 was added
gene: TBC1D24 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome
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
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
Additional findings_Paediatric v0.2 STAR Zornitza Stark gene: STAR was added
gene: STAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STAR were set to Congenital lipoid adrenal hyperplasia,
Additional findings_Paediatric v0.2 SRCAP Zornitza Stark gene: SRCAP was added
gene: SRCAP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SRCAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SRCAP were set to Floating-Harbor syndrome
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
Additional findings_Paediatric v0.2 SOX10 Zornitza Stark gene: SOX10 was added
gene: SOX10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SOX10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SOX10 were set to Shah-Waardenburg syndrome
Additional findings_Paediatric v0.2 SMN1 Zornitza Stark gene: SMN1 was added
gene: SMN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were set to Spinal muscular atrophy
Additional findings_Paediatric v0.2 SMARCAL1 Zornitza Stark gene: SMARCAL1 was added
gene: SMARCAL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia
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
Additional findings_Paediatric v0.2 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary
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
Additional findings_Paediatric v0.2 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome
Additional findings_Paediatric v0.2 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Chloride diarrhea, congenital, Finnish type
Additional findings_Paediatric v0.2 SLC25A20 Zornitza Stark gene: SLC25A20 was added
gene: SLC25A20 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency
Additional findings_Paediatric v0.2 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary
Additional findings_Paediatric v0.2 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome
Additional findings_Paediatric v0.2 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome
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
Additional findings_Paediatric v0.2 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A)
Additional findings_Paediatric v0.2 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C
Additional findings_Paediatric v0.2 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F
Additional findings_Paediatric v0.2 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E
Additional findings_Paediatric v0.2 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D
Additional findings_Paediatric v0.2 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary
Additional findings_Paediatric v0.2 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Ataxia-ocular apraxia 2
Additional findings_Paediatric v0.2 SEPT9 Zornitza Stark gene: SEPT9 was added
gene: SEPT9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SEPT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SEPT9 were set to Amyotrophy, hereditary neuralgic
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
Additional findings_Paediatric v0.2 SDHD Zornitza Stark gene: SDHD was added
gene: SDHD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SDHD were set to Hereditary Paraganglioma-Pheochromocytoma Syndromes
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
Additional findings_Paediatric v0.2 SCN4A Zornitza Stark gene: SCN4A was added
gene: SCN4A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SCN4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SCN4A were set to Hyperkalemic periodic paralysis, type 2
Additional findings_Paediatric v0.2 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia Charlevoix-Saguenay type
Additional findings_Paediatric v0.2 RYR2 Zornitza Stark Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic for gene: RYR2
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
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
Additional findings_Paediatric v0.2 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary
Additional findings_Paediatric v0.2 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary
Additional findings_Paediatric v0.2 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.2 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia
Additional findings_Paediatric v0.2 REN Zornitza Stark gene: REN was added
gene: REN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.2 RASA1 Zornitza Stark gene: RASA1 was added
gene: RASA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RASA1 were set to Capillary malformation-arteriovenous malformation
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
Additional findings_Paediatric v0.2 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome
Additional findings_Paediatric v0.2 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome
Additional findings_Paediatric v0.2 PTCH1 Zornitza Stark gene: PTCH1 was added
gene: PTCH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Nevoid basal cell carcinoma syndrome
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
Additional findings_Paediatric v0.2 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2
Additional findings_Paediatric v0.2 PRKAR1A Zornitza Stark gene: PRKAR1A was added
gene: PRKAR1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAR1A were set to Carney complex
Additional findings_Paediatric v0.2 PRKAG2 Zornitza Stark gene: PRKAG2 was added
gene: PRKAG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PRKAG2 were set to Wolff-Parkinson-White syndrome
Additional findings_Paediatric v0.2 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Mental retardation
Additional findings_Paediatric v0.2 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency
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
Additional findings_Paediatric v0.2 POMT1 Zornitza Stark Added phenotypes Walker-Warburg syndrome for gene: POMT1
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
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)
Additional findings_Paediatric v0.2 PNKD Zornitza Stark gene: PNKD was added
gene: PNKD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PNKD were set to Paroxysmal nonkinesiogenic dyskinesia
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
Additional findings_Paediatric v0.2 PLP1 Zornitza Stark Added phenotypes Spastic paraplegia 2, X-linked for gene: PLP1
Additional findings_Paediatric v0.2 PLEC Zornitza Stark Added phenotypes Muscular dystrophy for gene: PLEC
Additional findings_Paediatric v0.2 PINK1 Zornitza Stark gene: PINK1 was added
gene: PINK1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset
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
Additional findings_Paediatric v0.2 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2
Additional findings_Paediatric v0.2 PC Zornitza Stark gene: PC was added
gene: PC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency
Additional findings_Paediatric v0.2 PAX3 Zornitza Stark gene: PAX3 was added
gene: PAX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX3 were set to Waardenburg syndrome
Additional findings_Paediatric v0.2 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked
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
Additional findings_Paediatric v0.2 OSMR Zornitza Stark gene: OSMR was added
gene: OSMR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous
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
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
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
Additional findings_Paediatric v0.2 MYO3A Zornitza Stark gene: MYO3A was added
gene: MYO3A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO3A were set to Sensorineural hearing loss
Additional findings_Paediatric v0.2 MYO15A Zornitza Stark gene: MYO15A was added
gene: MYO15A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO15A were set to Sensorineural hearing loss
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
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
Additional findings_Paediatric v0.2 MSX2 Zornitza Stark gene: MSX2 was added
gene: MSX2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MSX2 were set to Parietal foramina 1
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
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
Additional findings_Paediatric v0.2 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency
Additional findings_Paediatric v0.2 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.2 MITF Zornitza Stark gene: MITF was added
gene: MITF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MITF were set to Waardenburg syndrome
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
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
Additional findings_Paediatric v0.2 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive
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
Additional findings_Paediatric v0.2 MARVELD2 Zornitza Stark gene: MARVELD2 was added
gene: MARVELD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MARVELD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARVELD2 were set to Deafness, autosomal recessive
Additional findings_Paediatric v0.2 MAP2K2 Zornitza Stark gene: MAP2K2 was added
gene: MAP2K2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome
Additional findings_Paediatric v0.2 MAP2K1 Zornitza Stark gene: MAP2K1 was added
gene: MAP2K1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome
Additional findings_Paediatric v0.2 MAFB Zornitza Stark gene: MAFB was added
gene: MAFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: MAFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MAFB were set to Multicentric carpotarsal osteolysis syndrome
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
Additional findings_Paediatric v0.2 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.2 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome
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
Additional findings_Paediatric v0.2 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMNA were set to Emery-Dreifuss muscular dystrophy 2
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
Additional findings_Paediatric v0.2 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined
Additional findings_Paediatric v0.2 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Walker-Warburg syndrome
Additional findings_Paediatric v0.2 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient
Additional findings_Paediatric v0.2 KIF21A Zornitza Stark gene: KIF21A was added
gene: KIF21A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital
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
Additional findings_Paediatric v0.2 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome
Additional findings_Paediatric v0.2 KAT6B Zornitza Stark gene: KAT6B was added
gene: KAT6B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: KAT6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KAT6B were set to Genitopatellar syndrome
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
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
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
Additional findings_Paediatric v0.2 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih
Additional findings_Paediatric v0.2 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II
Additional findings_Paediatric v0.2 HTRA1 Zornitza Stark gene: HTRA1 was added
gene: HTRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HTRA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to CARASIL syndrome
Additional findings_Paediatric v0.2 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome
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
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
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
Additional findings_Paediatric v0.2 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis IIIC
Additional findings_Paediatric v0.2 HDAC8 Zornitza Stark gene: HDAC8 was added
gene: HDAC8 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HDAC8 were set to Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle
Additional findings_Paediatric v0.2 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII
Additional findings_Paediatric v0.2 GRHPR Zornitza Stark gene: GRHPR was added
gene: GRHPR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II
Additional findings_Paediatric v0.2 ADGRG1 Zornitza Stark Added phenotypes Polymicrogyria, bilateral frontoparietal for gene: ADGRG1
Additional findings_Paediatric v0.2 GPR143 Zornitza Stark Added phenotypes Ocular albinism, type I for gene: GPR143
Additional findings_Paediatric v0.2 GNS Zornitza Stark Added phenotypes Mucopolysaccharidosis IIId for gene: GNS
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 GLRA1 Zornitza Stark Added phenotypes Hyperekplexia, hereditary 1, autosomal dominant or recessive for gene: GLRA1
Additional findings_Paediatric v0.2 GJB2 Zornitza Stark Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness and palmoplantar keratoderma for gene: GJB2
Additional findings_Paediatric v0.2 GJB1 Zornitza Stark Added phenotypes Charcot-Marie-Tooth neuropathy for gene: GJB1
Additional findings_Paediatric v0.2 GIPC3 Zornitza Stark Added phenotypes Hearing loss for gene: GIPC3
Additional findings_Paediatric v0.2 GDAP1 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: GDAP1
Additional findings_Paediatric v0.2 GCDH Zornitza Stark Added phenotypes Glutaricaciduria, type I for gene: GCDH
Additional findings_Paediatric v0.2 GATA4 Zornitza Stark Added phenotypes Congenital heart defects for gene: GATA4
Additional findings_Paediatric v0.2 GALNS Zornitza Stark Added phenotypes Mucopolysaccharidosis IVA for gene: GALNS
Additional findings_Paediatric v0.2 GALK1 Zornitza Stark Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1
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 FOXC2 Zornitza Stark Added phenotypes Lymphoedema, primary for gene: FOXC2
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 FKTN Zornitza Stark Added phenotypes Muscular dystrophy, Fukuyama for gene: FKTN
Additional findings_Paediatric v0.2 FKRP Zornitza Stark Added phenotypes Muscular dystrophy, limb girdle 2I for gene: FKRP
Additional findings_Paediatric v0.2 FHL1 Zornitza Stark Added phenotypes Emery-Dreifuss muscular dystrophy for gene: FHL1
Additional findings_Paediatric v0.2 FH Zornitza Stark Added phenotypes Fumarase deficiency for gene: FH
Additional findings_Paediatric v0.2 FGFR2 Zornitza Stark Added phenotypes Beare-Stevenson cutis gyrata syndrome for gene: FGFR2
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 FGD1 Zornitza Stark Added phenotypes Aarskog-Scott syndrome for gene: FGD1
Additional findings_Paediatric v0.2 FBN2 Zornitza Stark Added phenotypes Contractural arachnodactyly for gene: FBN2
Additional findings_Paediatric v0.2 FBN1 Zornitza Stark Added phenotypes Marfan's syndrome for gene: FBN1
Additional findings_Paediatric v0.2 FAM126A Zornitza Stark Added phenotypes Hypomyelination and congenital cataract for gene: FAM126A
Additional findings_Paediatric v0.2 ETFDH Zornitza Stark Added phenotypes Glutaric acidemia IIC for gene: ETFDH
Additional findings_Paediatric v0.2 ETFB Zornitza Stark Added phenotypes Glutaric acidemia IIB for gene: ETFB
Additional findings_Paediatric v0.2 ETFA Zornitza Stark Added phenotypes Glutaric acidemia IIA for gene: ETFA
Additional findings_Paediatric v0.2 ESRRB Zornitza Stark Added phenotypes Hearing loss for gene: ESRRB
Additional findings_Paediatric v0.2 ENPP1 Zornitza Stark Added phenotypes Arterial calcification, generalized, of infancy, 1 for gene: ENPP1
Additional findings_Paediatric v0.2 ENG Zornitza Stark Added phenotypes Telangiectasia, hereditary hemorrhagic, type 1 for gene: ENG
Additional findings_Paediatric v0.2 EMD Zornitza Stark Added phenotypes Muscular dystrophy, Emery-Dreifuss for gene: EMD
Additional findings_Paediatric v0.2 ELN Zornitza Stark Added phenotypes Supravalvar aortic stenosis for gene: ELN
Additional findings_Paediatric v0.2 EGR2 Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: EGR2
Additional findings_Paediatric v0.2 EDARADD Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDARADD
Additional findings_Paediatric v0.2 EDAR Zornitza Stark Added phenotypes Ectodermal dysplasia, hypohidrotic for gene: EDAR
Additional findings_Paediatric v0.2 DYSF Zornitza Stark Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF
Additional findings_Paediatric v0.2 DYSF Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2B for gene: DYSF
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 DNAJB6 Zornitza Stark Added phenotypes Muscular dystrophy, limb girdle for gene: DNAJB6
Additional findings_Paediatric v0.2 DNAI1 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAI1
Additional findings_Paediatric v0.2 DNAH5 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAH5
Additional findings_Paediatric v0.2 DNAH11 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAH11
Additional findings_Paediatric v0.2 DNAAF1 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: DNAAF1
Additional findings_Paediatric v0.2 DMP1 Zornitza Stark Added phenotypes Hypophosphatemic rickets, AR for gene: DMP1
Additional findings_Paediatric v0.2 DMD Zornitza Stark Added phenotypes Becker muscular dystrophy for gene: DMD
Additional findings_Paediatric v0.2 DMD Zornitza Stark Added phenotypes Duchenne muscular dystrophy for gene: DMD
Additional findings_Paediatric v0.2 DFNB59 Zornitza Stark Added phenotypes Hearing loss for gene: DFNB59
Additional findings_Paediatric v0.2 DFNA5 Zornitza Stark Added phenotypes Hearing loss for gene: DFNA5
Additional findings_Paediatric v0.2 DES Zornitza Stark Added phenotypes Myopathy, myofibrillar for gene: DES
Additional findings_Paediatric v0.2 DDC Zornitza Stark Added phenotypes Aromatic L-amino acid decarboxylase deficiency for gene: DDC
Additional findings_Paediatric v0.2 D2HGDH Zornitza Stark Added phenotypes D-2-hydroxyglutaric aciduria for gene: D2HGDH
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 CSF2RA Zornitza Stark Added phenotypes Pulmonary alveolar proteinosis for gene: CSF2RA
Additional findings_Paediatric v0.2 CRYAB Zornitza Stark Added phenotypes Myofibrillar myopathy for gene: CRYAB
Additional findings_Paediatric v0.2 CPT2 Zornitza Stark Added phenotypes Carnitine palmitoyltransferase 2 deficiency for gene: CPT2
Additional findings_Paediatric v0.2 CPT1A Zornitza Stark Added phenotypes Carnitine palmitoyltransferase I deficiency for gene: CPT1A
Additional findings_Paediatric v0.2 CPS1 Zornitza Stark Added phenotypes Carbamoylphosphate synthetase I deficiency for gene: CPS1
Additional findings_Paediatric v0.2 COL6A3 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A3
Additional findings_Paediatric v0.2 COL6A2 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A2
Additional findings_Paediatric v0.2 COL6A1 Zornitza Stark Added phenotypes Ullrich congenital muscular dystrophy for gene: COL6A1
Additional findings_Paediatric v0.2 CLDN19 Zornitza Stark Added phenotypes Hypomagnesemia 5, renal, with ocular involvement for gene: CLDN19
Additional findings_Paediatric v0.2 CLDN14 Zornitza Stark Added phenotypes Hearing loss, non-syndromic, autosomal recessive for gene: CLDN14
Additional findings_Paediatric v0.2 CHKB Zornitza Stark Added phenotypes Muscular dystrophy, congenital, megaconial type for gene: CHKB
Additional findings_Paediatric v0.2 CHD7 Zornitza Stark Added phenotypes CHARGE syndrome for gene: CHD7
Additional findings_Paediatric v0.2 CFC1 Zornitza Stark Added phenotypes Congenital heart defects for gene: CFC1
Additional findings_Paediatric v0.2 CDKL5 Zornitza Stark Added phenotypes Epileptic encephalopathy, early infantile, 2 for gene: CDKL5
Additional findings_Paediatric v0.2 CCDC40 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: CCDC40
Additional findings_Paediatric v0.2 CCDC39 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: CCDC39
Additional findings_Paediatric v0.2 CAV3 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type IC, for gene: CAV3
Additional findings_Paediatric v0.2 CASQ2 Zornitza Stark Added phenotypes Ventricular tachycardia, catecholaminergic polymorphic for gene: CASQ2
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 CAPN3 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2A for gene: CAPN3
Additional findings_Paediatric v0.2 CACNA1F Zornitza Stark Added phenotypes Night blindness, congenital stationary (complete), 1A, X-linked for gene: CACNA1F
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 TWNK Zornitza Stark Added phenotypes Spinocerebellar ataxia infantile-onset for gene: TWNK
Additional findings_Paediatric v0.2 BSND Zornitza Stark Added phenotypes Bartter syndrome with sensorineural deafness for gene: BSND
Additional findings_Paediatric v0.2 BSCL2 Zornitza Stark Added phenotypes Berardinelli-Seip lipodystrophy for gene: BSCL2
Additional findings_Paediatric v0.2 BRAF Zornitza Stark Added phenotypes Cardiofaciocutaneous syndrome for gene: BRAF
Additional findings_Paediatric v0.2 BIN1 Zornitza Stark Added phenotypes Myopathy, centronuclear, autosomal recessive for gene: BIN1
Additional findings_Paediatric v0.2 BICD2 Zornitza Stark Added phenotypes Congenital spinal muscular atrophy for gene: BICD2
Additional findings_Paediatric v0.2 BBS9 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS9
Additional findings_Paediatric v0.2 BBS7 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS7
Additional findings_Paediatric v0.2 BBS5 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS5
Additional findings_Paediatric v0.2 BBS4 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS4
Additional findings_Paediatric v0.2 BBS2 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS2
Additional findings_Paediatric v0.2 BBS12 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS12
Additional findings_Paediatric v0.2 BBS10 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS10
Additional findings_Paediatric v0.2 BBS1 Zornitza Stark Added phenotypes Bardet-Biedl syndrome for gene: BBS1
Additional findings_Paediatric v0.2 ATRX Zornitza Stark Added phenotypes Alpha-thalassemia/mental retardation syndrome for gene: ATRX
Additional findings_Paediatric v0.2 ATP6V1B1 Zornitza Stark Added phenotypes Renal tubular acidosis & hearing loss for gene: ATP6V1B1
Additional findings_Paediatric v0.2 ASL Zornitza Stark Added phenotypes Argininosuccinic aciduria for gene: ASL
Additional findings_Paediatric v0.2 ARX Zornitza Stark Added phenotypes Lissencephaly, X-linked 2 for gene: ARX
Additional findings_Paediatric v0.2 ARSB Zornitza Stark Added phenotypes Mucopolysaccharidosis type VI (Maroteaux-Lamy) for gene: ARSB
Additional findings_Paediatric v0.2 ARSA Zornitza Stark Added phenotypes Metachromatic leukodystrophy for gene: ARSA
Additional findings_Paediatric v0.2 ARMC4 Zornitza Stark Added phenotypes Primary ciliary dyskinesia for gene: ARMC4
Additional findings_Paediatric v0.2 ARID1B Zornitza Stark Added phenotypes Coffin-Siris syndrome for gene: ARID1B
Additional findings_Paediatric v0.2 ARG1 Zornitza Stark Added phenotypes Arginase deficiency for gene: ARG1
Additional findings_Paediatric v0.2 ARFGEF2 Zornitza Stark Added phenotypes Periventricular heterotopia with microcephaly for gene: ARFGEF2
Additional findings_Paediatric v0.2 AR Zornitza Stark Added phenotypes Androgen insensitivity for gene: AR
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 ANO5 Zornitza Stark Added phenotypes Muscular dystrophy, limb-girdle, type 2L for gene: ANO5
Additional findings_Paediatric v0.2 ANO10 Zornitza Stark Added phenotypes Spinocerebellar ataxia, autosomal recessive 10 for gene: ANO10
Additional findings_Paediatric v0.2 ALX4 Zornitza Stark Added phenotypes Parietal foramina 2 for gene: ALX4
Additional findings_Paediatric v0.2 ALDH3A2 Zornitza Stark Added phenotypes Sjogren-Larsson syndrome for gene: ALDH3A2
Additional findings_Paediatric v0.2 AGXT Zornitza Stark Added phenotypes Hyperoxaluria, primary, type 1 for gene: AGXT
Additional findings_Paediatric v0.2 AGA Zornitza Stark Added phenotypes Aspartylglucosaminuria for gene: AGA
Additional findings_Paediatric v0.2 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR
Additional findings_Paediatric v0.2 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome for gene: ADAR
Additional findings_Paediatric v0.2 ACVRL1 Zornitza Stark Added phenotypes Telangiectasia, hereditary hemorrhagic, type 2 for gene: ACVRL1
Additional findings_Paediatric v0.2 ACTG1 Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1
Additional findings_Paediatric v0.2 ACTB Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTB
Additional findings_Paediatric v0.2 ACE Zornitza Stark Added phenotypes Renal tubular dysgenesis for gene: ACE
Additional findings_Paediatric v0.2 ABCA4 Zornitza Stark Added phenotypes Stargardt disease for gene: ABCA4
Additional findings_Paediatric v0.2 ABCA3 Zornitza Stark Added phenotypes Surfactant metabolism dysfunction, pulmonary, 3 for gene: ABCA3
Additional findings_Paediatric v0.2 AARS Zornitza Stark Added phenotypes Charcot-Marie-Tooth disease for gene: AARS
Additional findings_Paediatric v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal
Additional findings_Paediatric v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I
Additional findings_Paediatric v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis IIId
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
Additional findings_Paediatric v0.0 GLRA1 Zornitza Stark gene: GLRA1 was added
gene: GLRA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GLRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLRA1 were set to Hyperekplexia, hereditary 1, autosomal dominant or recessive
Additional findings_Paediatric v0.0 GJB2 Zornitza Stark Mode of inheritance for gene GJB2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness and palmoplantar keratoderma for gene: GJB2
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
Additional findings_Paediatric v0.0 GIPC3 Zornitza Stark gene: GIPC3 was added
gene: GIPC3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GIPC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GIPC3 were set to Hearing loss
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
Additional findings_Paediatric v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I
Additional findings_Paediatric v0.0 GATA4 Zornitza Stark gene: GATA4 was added
gene: GATA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA4 were set to Congenital heart defects
Additional findings_Paediatric v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA
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
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
Additional findings_Paediatric v0.0 FOXC2 Zornitza Stark gene: FOXC2 was added
gene: FOXC2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FOXC2 were set to Lymphoedema, primary
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 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy, Fukuyama
Additional findings_Paediatric v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy, limb girdle 2I
Additional findings_Paediatric v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy
Additional findings_Paediatric v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency
Additional findings_Paediatric v0.0 FGFR2 Zornitza Stark Added phenotypes Beare-Stevenson cutis gyrata syndrome for gene: FGFR2
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
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
Additional findings_Paediatric v0.0 FGD1 Zornitza Stark gene: FGD1 was added
gene: FGD1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FGD1 were set to Aarskog-Scott syndrome
Additional findings_Paediatric v0.0 FBN2 Zornitza Stark gene: FBN2 was added
gene: FBN2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN2 were set to Contractural arachnodactyly
Additional findings_Paediatric v0.0 FBN1 Zornitza Stark gene: FBN1 was added
gene: FBN1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FBN1 were set to Marfan's syndrome
Additional findings_Paediatric v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Hypomyelination and congenital cataract
Additional findings_Paediatric v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC
Additional findings_Paediatric v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB
Additional findings_Paediatric v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA
Additional findings_Paediatric v0.0 ESRRB Zornitza Stark gene: ESRRB was added
gene: ESRRB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ESRRB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESRRB were set to Hearing loss
Additional findings_Paediatric v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1
Additional findings_Paediatric v0.0 ENG Zornitza Stark gene: ENG was added
gene: ENG was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1
Additional findings_Paediatric v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Muscular dystrophy, Emery-Dreifuss
Additional findings_Paediatric v0.0 ELN Zornitza Stark gene: ELN was added
gene: ELN was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ELN were set to Supravalvar aortic stenosis
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
Additional findings_Paediatric v0.0 EDARADD Zornitza Stark gene: EDARADD was added
gene: EDARADD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDARADD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EDARADD were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia, hypohidrotic
Additional findings_Paediatric v0.0 DYSF Zornitza Stark Added phenotypes Miyoshi muscular dystrophy 1 for gene: DYSF
Additional findings_Paediatric v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B
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
Additional findings_Paediatric v0.0 DNAJB6 Zornitza Stark gene: DNAJB6 was added
gene: DNAJB6 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAJB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DNAJB6 were set to Muscular dystrophy, limb girdle
Additional findings_Paediatric v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 DMP1 Zornitza Stark gene: DMP1 was added
gene: DMP1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DMP1 were set to Hypophosphatemic rickets, AR
Additional findings_Paediatric v0.0 DMD Zornitza Stark Added phenotypes Becker muscular dystrophy for gene: DMD
Additional findings_Paediatric v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy
Additional findings_Paediatric v0.0 DFNB59 Zornitza Stark gene: DFNB59 was added
gene: DFNB59 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DFNB59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DFNB59 were set to Hearing loss
Additional findings_Paediatric v0.0 DFNA5 Zornitza Stark gene: DFNA5 was added
gene: DFNA5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DFNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DFNA5 were set to Hearing loss
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
Additional findings_Paediatric v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency
Additional findings_Paediatric v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria
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
Additional findings_Paediatric v0.0 CSF2RA Zornitza Stark gene: CSF2RA was added
gene: CSF2RA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CSF2RA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CSF2RA were set to Pulmonary alveolar proteinosis
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
Additional findings_Paediatric v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to Carnitine palmitoyltransferase 2 deficiency
Additional findings_Paediatric v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to Carnitine palmitoyltransferase I deficiency
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
Additional findings_Paediatric v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy
Additional findings_Paediatric v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy
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
Additional findings_Paediatric v0.0 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CLDN14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN14 were set to Hearing loss, non-syndromic, autosomal recessive
Additional findings_Paediatric v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type
Additional findings_Paediatric v0.0 CHD7 Zornitza Stark gene: CHD7 was added
gene: CHD7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome
Additional findings_Paediatric v0.0 CFC1 Zornitza Stark gene: CFC1 was added
gene: CFC1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CFC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CFC1 were set to Congenital heart defects
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
Additional findings_Paediatric v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 CAV3 Zornitza Stark gene: CAV3 was added
gene: CAV3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CAV3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CAV3 were set to Muscular dystrophy, limb-girdle, type IC,
Additional findings_Paediatric v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic
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
Additional findings_Paediatric v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A
Additional findings_Paediatric v0.0 CACNA1F Zornitza Stark gene: CACNA1F was added
gene: CACNA1F was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (complete), 1A, X-linked
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
Additional findings_Paediatric v0.0 TWNK Zornitza Stark gene: TWNK was added
gene: TWNK was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar ataxia infantile-onset
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
Additional findings_Paediatric v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Berardinelli-Seip lipodystrophy
Additional findings_Paediatric v0.0 BRAF Zornitza Stark gene: BRAF was added
gene: BRAF was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome
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
Additional findings_Paediatric v0.0 BICD2 Zornitza Stark gene: BICD2 was added
gene: BICD2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BICD2 were set to Congenital spinal muscular atrophy
Additional findings_Paediatric v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome
Additional findings_Paediatric v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome
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
Additional findings_Paediatric v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis & hearing loss
Additional findings_Paediatric v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria
Additional findings_Paediatric v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Lissencephaly, X-linked 2
Additional findings_Paediatric v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy)
Additional findings_Paediatric v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy
Additional findings_Paediatric v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Primary ciliary dyskinesia
Additional findings_Paediatric v0.0 ARID1B Zornitza Stark gene: ARID1B was added
gene: ARID1B was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome
Additional findings_Paediatric v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Arginase deficiency
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
Additional findings_Paediatric v0.0 AR Zornitza Stark gene: AR was added
gene: AR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Androgen insensitivity
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
Additional findings_Paediatric v0.0 ANO5 Zornitza Stark gene: ANO5 was added
gene: ANO5 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANO5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO5 were set to Muscular dystrophy, limb-girdle, type 2L
Additional findings_Paediatric v0.0 ANO10 Zornitza Stark gene: ANO10 was added
gene: ANO10 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10
Additional findings_Paediatric v0.0 ALX4 Zornitza Stark gene: ALX4 was added
gene: ALX4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ALX4 were set to Parietal foramina 2
Additional findings_Paediatric v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome
Additional findings_Paediatric v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1
Additional findings_Paediatric v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria
Additional findings_Paediatric v0.0 ADAR Zornitza Stark Mode of inheritance for gene ADAR was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Dyschromatosis symmetrica hereditaria for gene: ADAR
Additional findings_Paediatric v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome
Additional findings_Paediatric v0.0 ACVRL1 Zornitza Stark gene: ACVRL1 was added
gene: ACVRL1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2
Additional findings_Paediatric v0.0 ACTG1 Zornitza Stark Added phenotypes Baraitser-Winter syndrome for gene: ACTG1
Additional findings_Paediatric v0.0 ACTB Zornitza Stark gene: ACTB was added
gene: ACTB was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTB were set to Baraitser-Winter syndrome
Additional findings_Paediatric v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis
Additional findings_Paediatric v0.0 ABCA4 Zornitza Stark gene: ABCA4 was added
gene: ABCA4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA4 were set to Stargardt disease
Additional findings_Paediatric v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3
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