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| Genomic newborn screening: BabyScreen+ v1.147 | CTU2 |
Sinead OSullivan gene: CTU2 was added gene: CTU2 was added to Genomic newborn screening: BabyScreen+. Sources: Literature Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTU2 were set to PMID: 31301155; 27480277; 26633546 Phenotypes for gene: CTU2 were set to global developmental delay; microcephaly; growth restriction; dysmorphism; renal agenesis; congenital heart defects, epilepsy, microphthalmia; coloboma Review for gene: CTU2 was set to GREEN Added comment: PMID: 26633546 - 3 consanguineous families all with the same splice variant (NM_001012762.1:c.873G>A). Assumed to be founder variant - all had microcephaly but measurements were not provided PMID: 27480277 - 2 additional patients from an extended consanguineous family with the same variant as above - Patient 1: head circumference of -3.5SD at birth, not growing - Patient 2: head circumference of -4.3 SD PMID: 31301155 - 5 new patients with microcephaly (no measurements provided) - 3x PTVs and 1x missense PMID: 38348206 - 1 new patient with microcephaly, dysmorphism, ambiguous genitalia and atrial septal defect - From the consanguineous family stated above with the splice site founder variant (NM_001012762.1:c.873G>A) Sources: Literature |
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