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| 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 v0.243 | CEP83 |
Zornitza Stark gene: CEP83 was added gene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706; 33938610 Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID Review for gene: CEP83 was set to GREEN Added comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis. PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. Sources: Expert Review |
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| Additional findings_Paediatric v0.204 | AP4B1 |
Zornitza Stark gene: AP4B1 was added gene: AP4B1 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32979048; 32171285; 32166732; 31525725; 31525725 Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066 Review for gene: AP4B1 was set to GREEN Added comment: Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development. More than 10 unrelated families reported. Sources: Expert Review |
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| Additional findings_Paediatric v0.202 | AP4E1 |
Zornitza Stark gene: AP4E1 was added gene: AP4E1 was added to Additional findings_Paediatric. Sources: Expert Review Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4E1 were set to 20972249; 21620353; 21937992; 32979048; 23472171 Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744 Review for gene: AP4E1 was set to GREEN Added comment: Spastic paraplegia-51 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe intellectual disability with poor or absent speech development. More than 5 unrelated families reported. Sources: Expert Review |
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| Additional findings_Paediatric v0.190 | PLS1 |
Lilian Downie gene: PLS1 was added gene: PLS1 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PLS1 were set to Deafness Review for gene: PLS1 was set to GREEN Added comment: Deafness_isolated list Sources: Expert list |
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| Additional findings_Paediatric v0.190 | OSBPL2 |
Lilian Downie gene: OSBPL2 was added gene: OSBPL2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: OSBPL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OSBPL2 were set to Deafness, autosomal dominant 67, MIM# 616340 Review for gene: OSBPL2 was set to GREEN Added comment: From deafness_isolated Sources: Expert list |
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| Additional findings_Paediatric v0.190 | MPZL2 |
Lilian Downie gene: MPZL2 was added gene: MPZL2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145 Review for gene: MPZL2 was set to GREEN Added comment: From deafness_isolated Sources: Expert list |
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| Additional findings_Paediatric v0.190 | LMX1A |
Lilian Downie gene: LMX1A was added gene: LMX1A was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LMX1A were set to Deafness MIM#601412 Added comment: Can be paediatric or adult onset ?inclusion Sources: Expert list |
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| Additional findings_Paediatric v0.163 | 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 |
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| Additional findings_Paediatric v0.140 | GATA3 |
Lilian Downie gene: GATA3 was added gene: GATA3 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Review for gene: GATA3 was set to GREEN Added comment: Sources: Expert list |
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| Additional findings_Paediatric v0.140 | 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 |
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| Additional findings_Paediatric v0.140 | EPS8L2 |
Lilian Downie gene: EPS8L2 was added gene: EPS8L2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: EPS8L2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8L2 were set to Deafness, MIM#617637 Review for gene: EPS8L2 was set to GREEN Added comment: Sources: Expert list |
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| Additional findings_Paediatric v0.140 | EPS8 |
Lilian Downie gene: EPS8 was added gene: EPS8 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: EPS8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EPS8 were set to deafness MIM#600205 Review for gene: EPS8 was set to GREEN Added comment: Sources: Expert list |
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| Additional findings_Paediatric v0.140 | DMXL2 |
Lilian Downie gene: DMXL2 was added gene: DMXL2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: DMXL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMXL2 were set to Developmental and epileptic encephalopathy 81, MIM#618663 Review for gene: DMXL2 was set to GREEN Added comment: EE and deafness Sources: Expert list |
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| Additional findings_Paediatric v0.134 | COL9A3 |
Lilian Downie gene: COL9A3 was added gene: COL9A3 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: COL9A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL9A3 were set to Stickler syndrome Review for gene: COL9A3 was set to GREEN Added comment: Sources: Expert list |
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| 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 |
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| Additional findings_Paediatric v0.134 | CDC14A |
Lilian Downie gene: CDC14A was added gene: CDC14A was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: CDC14A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CDC14A were set to Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 Review for gene: CDC14A was set to GREEN Added comment: Sources: Expert list |
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| Additional findings_Paediatric v0.134 | CABP2 |
Lilian Downie gene: CABP2 was added gene: CABP2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: CABP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CABP2 were set to Deafness, autosomal recessive 93, MIM# 614899 |
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| Additional findings_Paediatric v0.134 | ATP2B2 |
Lilian Downie gene: ATP2B2 was added gene: ATP2B2 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: ATP2B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATP2B2 were set to Deafness, childhood onset Review for gene: ATP2B2 was set to GREEN Added comment: Sources: Expert list |
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| Additional findings_Paediatric v0.134 | ADGRV1 |
Lilian Downie gene: ADGRV1 was added gene: ADGRV1 was added to Additional findings_Paediatric. Sources: Expert list Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C Added comment: Added from deafness gene list Sources: Expert list |
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| Additional findings_Paediatric v0.127 | Zornitza Stark Panel name changed from Additional findings Paediatric to Additional findings_Paediatric | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.125 |
Zornitza Stark Panel name changed from Newborn Screening_BabySeq to Additional findings Paediatric Panel types changed to Australian Genomics |
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| Additional findings_Paediatric v0.47 | KRIT1 |
Lilian Downie gene: KRIT1 was added gene: KRIT1 was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: KRIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRIT1 were set to PMID: 30061145, 20301470, 27561926 Phenotypes for gene: KRIT1 were set to Cerebral cavernous malformations-1 MIM# 116860 Review for gene: KRIT1 was set to AMBER Added comment: Not evaluated by Babyseq, included in NC NEXUS list. Cerebral cavernous angiomas are relatively rare vascular malformations that may involve any part of the central nervous system. Complications of rupture/bleeding can cause seizures, stroke, neurological deficits. Screening and management is available. Rare but can be paediatric onset: see PMID's. Sources: Expert list |
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| Additional findings_Paediatric v0.20 | PTPRC |
Lilian Downie gene: PTPRC was added gene: PTPRC was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PTPRC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTPRC were set to Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 151460 Review for gene: PTPRC was set to GREEN Added comment: Not reviewed by Babyseq, paediatric onset disease that is actionable with BMT (included in NCNEXUS list). Sources: Expert list |
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| Additional findings_Paediatric v0.20 | PYGM |
Lilian Downie gene: PYGM was added gene: PYGM was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McCardle disease MIM# 608455 Review for gene: PYGM was set to GREEN Added comment: McCardle disease: glycogen storage disease type V (GSD5), characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence. Transient myoglobinuria may occur after exercise, due to rhabdomyolysis. Severe myoglobinuria may lead to acute renal failure. Patients may report muscle weakness, myalgia, and lack of endurance since childhood or adolescence. Later in adult life, there is persistent and progressive muscle weakness and atrophy with fatty replacement. McArdle disease is a relatively benign disorder, except for possible renal failure as a complication of myoglobinuria Not reviewed by Babyseq, included in NCNEXUS newborn screening list. Actionable by controlled physical activity and programmed glucose intake. Sources: Expert list |
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| Additional findings_Paediatric v0.14 | 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 Phenotypes for gene: AR were changed from Spinal and bulbar muscular atrophy of Kennedy; Androgen insensitivity to Androgen insensitivity, MIM# 300068 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | VPS53 |
Zornitza Stark gene: VPS53 was added gene: VPS53 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VPS53 were set to Progressive cerebello-cerebral atrophy |
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| 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 |
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| Additional findings_Paediatric v0.2 | SCN2B |
Zornitza Stark gene: SCN2B was added gene: SCN2B was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: SCN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN2B were set to Atrial fibrillation |
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| Additional findings_Paediatric v0.2 | RFX6 |
Zornitza Stark gene: RFX6 was added gene: RFX6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX6 were set to Diabetes, neonatal, with intestinal atresia |
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| Additional findings_Paediatric v0.2 | OPA3 |
Zornitza Stark Source BabySeq Category C gene was added to OPA3. Source Expert Review Red was added to OPA3. Mode of inheritance for gene OPA3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Optic atrophy 3 with cataract for gene: OPA3 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | NUP155 |
Zornitza Stark gene: NUP155 was added gene: NUP155 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NUP155 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NUP155 were set to Atrial fibrillation |
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| Additional findings_Paediatric v0.2 | NPPA |
Zornitza Stark gene: NPPA was added gene: NPPA was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: NPPA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NPPA were set to Atrial fibrillation |
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| Additional findings_Paediatric v0.2 | MYH6 |
Zornitza Stark gene: MYH6 was added gene: MYH6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: MYH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH6 were set to Atrial septal defect |
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| Additional findings_Paediatric v0.2 | KCNE5 |
Zornitza Stark gene: KCNE5 was added gene: KCNE5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: KCNE5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNE5 were set to Atrial fibrillation |
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| Additional findings_Paediatric v0.2 | GATA6 |
Zornitza Stark gene: GATA6 was added gene: GATA6 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA6 were set to Atrial fibrillation |
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| Additional findings_Paediatric v0.2 | GATA5 |
Zornitza Stark gene: GATA5 was added gene: GATA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: GATA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GATA5 were set to Familial atrial fibrillation |
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| 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 |
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| Additional findings_Paediatric v0.2 | CACNA1D |
Zornitza Stark gene: CACNA1D was added gene: CACNA1D was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CACNA1D was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CACNA1D were set to Sinoatrial node dysfunction and deafness |
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| Additional findings_Paediatric v0.2 | ATR |
Zornitza Stark gene: ATR was added gene: ATR was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATR were set to Seckel syndrome |
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| 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) |
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| Additional findings_Paediatric v0.2 | ATN1 |
Zornitza Stark gene: ATN1 was added gene: ATN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ATN1 were set to Dentatorubral-pallidoluysian atrophy 1 |
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| Additional findings_Paediatric v0.2 | ASNS |
Zornitza Stark gene: ASNS was added gene: ASNS was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Microcephaly, intellectual disability, cerebral atrophy & intractable seizures |
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| 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) |
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| Additional findings_Paediatric v0.2 | ACTC1 |
Zornitza Stark Source BabySeq Category C gene was added to ACTC1. Source Expert Review Red was added to ACTC1. Added phenotypes Atrial septal defect for gene: ACTC1 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | ABCC9 |
Zornitza Stark Source BabySeq Category C gene was added to ABCC9. Source Expert Review Red was added to ABCC9. Added phenotypes Atrial fibrillation, familial for gene: ABCC9 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Additional findings_Paediatric v0.2 | KCNA5 |
Zornitza Stark gene: KCNA5 was added gene: KCNA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: KCNA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA5 were set to Atrial fibrillation |
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| Additional findings_Paediatric v0.2 | GJA5 |
Zornitza Stark gene: GJA5 was added gene: GJA5 was added to Newborn Screening_BabySeq. Sources: BabySeq Category B gene,Expert Review Amber Mode of inheritance for gene: GJA5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: GJA5 were set to Atrial fibrillation |
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| Additional findings_Paediatric v0.2 | TTC7A |
Zornitza Stark gene: TTC7A was added gene: TTC7A was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TTC7A were set to Immunodeficiency, combined, with intestinal atresias |
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| Additional findings_Paediatric v0.2 | 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 |
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| Additional findings_Paediatric v0.2 | OPA1 |
Zornitza Stark gene: OPA1 was added gene: OPA1 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA1 were set to Optic atrophy 1 |
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| Additional findings_Paediatric v0.2 | ITGB4 |
Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia |
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| Additional findings_Paediatric v0.2 | IGHMBP2 |
Zornitza Stark gene: IGHMBP2 was added gene: IGHMBP2 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IGHMBP2 were set to Spinal muscular atrophy with respiratory distress |
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| Additional findings_Paediatric v0.2 | BICD2 | Zornitza Stark Added phenotypes Congenital spinal muscular atrophy for gene: BICD2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.2 | ATRX | Zornitza Stark Added phenotypes Alpha-thalassemia/mental retardation syndrome for gene: ATRX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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| Additional findings_Paediatric v0.0 | ATRX |
Zornitza Stark gene: ATRX was added gene: ATRX was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to Alpha-thalassemia/mental retardation syndrome |
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