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Mendeliome v0.7348 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Green List (high evidence)
Mendeliome v0.7348 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Green List (High Evidence).
Mendeliome v0.7347 DNAJB13 Zornitza Stark changed review comment from: Additional individual identified by VCGS laboratory, homozygous LoF variant.; to: Additional individual identified by VCGS laboratory, homozygous LoF variant and PCD.
Mendeliome v0.7347 DNAJB13 Zornitza Stark changed review comment from: Additional individual identified by VCGS laboratory.; to: Additional individual identified by VCGS laboratory, homozygous LoF variant.
Mendeliome v0.7347 DNAJB13 Zornitza Stark edited their review of gene: DNAJB13: Added comment: Additional individual identified by VCGS laboratory.; Changed rating: GREEN
Mendeliome v0.2757 DNAJB13 Zornitza Stark Marked gene: DNAJB13 as ready
Mendeliome v0.2757 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2757 DNAJB13 Zornitza Stark Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, MIM# 617091
Mendeliome v0.2756 DNAJB13 Zornitza Stark Publications for gene: DNAJB13 were set to
Mendeliome v0.2755 DNAJB13 Zornitza Stark Mode of inheritance for gene: DNAJB13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.2754 DNAJB13 Zornitza Stark Classified gene: DNAJB13 as Amber List (moderate evidence)
Mendeliome v0.2754 DNAJB13 Zornitza Stark Gene: dnajb13 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.2753 DNAJB13 Zornitza Stark reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34, MIM# 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.0 DNAJB13 Zornitza Stark gene: DNAJB13 was added
gene: DNAJB13 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAJB13 was set to Unknown