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Mendeliome v0.3433 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Mendeliome v0.3433 NR0B1 Zornitza Stark Added comment: Comment when marking as ready: Note 46XY reversal disorder is only associated with duplications.
Mendeliome v0.3433 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Mendeliome v0.3433 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from Adrenal hypoplasia, congenital (MIM# 300200) to Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018
Mendeliome v0.3432 NR0B1 Zornitza Stark Classified gene: NR0B1 as Green List (high evidence)
Mendeliome v0.3432 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Mendeliome v0.3431 NR0B1 Zornitza Stark Classified gene: NR0B1 as Amber List (moderate evidence)
Mendeliome v0.3431 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.3430 NR0B1 Zornitza Stark Tag SV/CNV tag was added to gene: NR0B1.
Mendeliome v0.3430 NR0B1 Zornitza Stark Marked gene: NR0B1 as ready
Mendeliome v0.3430 NR0B1 Zornitza Stark Gene: nr0b1 has been classified as Green List (High Evidence).
Mendeliome v0.3430 NR0B1 Zornitza Stark Phenotypes for gene: NR0B1 were changed from to Adrenal hypoplasia, congenital (MIM# 300200)
Mendeliome v0.3429 NR0B1 Zornitza Stark Publications for gene: NR0B1 were set to
Mendeliome v0.3428 NR0B1 Zornitza Stark Mode of inheritance for gene: NR0B1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.3413 NR0B1 Ain Roesley reviewed gene: NR0B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19508677, 26030781; Phenotypes: Adrenal hypoplasia, congenital (MIM# 300200); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NR0B1 was set to Unknown