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Additional findings_Paediatric v0.2 | CLDN1 |
Zornitza Stark gene: CLDN1 was added gene: CLDN1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis |
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Additional findings_Paediatric v0.2 | 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 v0.0 | CLDN19 |
Zornitza Stark gene: CLDN19 was added gene: CLDN19 was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement |
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Additional findings_Paediatric v0.0 | 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 |