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Genomic newborn screening: BabyScreen+ v0.1679 CLDN14 Zornitza Stark Tag deafness tag was added to gene: CLDN14.
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Marked gene: CLDN19 as ready
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.654 CLDN19 Zornitza Stark Phenotypes for gene: CLDN19 were changed from Hypomagnesemia 5, renal, with ocular involvement to Deafness, autosomal recessive 116 MIM#619093
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Classified gene: CLDN19 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v0.653 CLDN19 Zornitza Stark Gene: cldn19 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN19 Zornitza Stark reviewed gene: CLDN19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 116 MIM#619093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Marked gene: CLDN14 as ready
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Gene: cldn14 has been classified as Green List (High Evidence).
Genomic newborn screening: BabyScreen+ v0.652 CLDN14 Zornitza Stark Phenotypes for gene: CLDN14 were changed from Hearing loss, non-syndromic, autosomal recessive to Deafness, autosomal recessive 29, MIM# 614035
Genomic newborn screening: BabyScreen+ v0.651 CLDN14 Zornitza Stark reviewed gene: CLDN14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 29, MIM# 614035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genomic newborn screening: BabyScreen+ v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
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
Genomic newborn screening: BabyScreen+ v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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
Genomic newborn screening: BabyScreen+ v0.0 CLDN14 Zornitza Stark gene: CLDN14 was added
gene: CLDN14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green
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