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Mendeliome v0.6267 DCXR Zornitza Stark Marked gene: DCXR as ready
Mendeliome v0.6267 DCXR Zornitza Stark Gene: dcxr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6267 DCXR Zornitza Stark Classified gene: DCXR as Amber List (moderate evidence)
Mendeliome v0.6267 DCXR Zornitza Stark Gene: dcxr has been classified as Amber List (Moderate Evidence).
Mendeliome v0.6266 DCXR Zornitza Stark gene: DCXR was added
gene: DCXR was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCXR were set to 22042873
Phenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism
Review for gene: DCXR was set to AMBER
Added comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign.
Sources: Expert list
Mendeliome v0.3973 DCX Zornitza Stark Marked gene: DCX as ready
Mendeliome v0.3973 DCX Zornitza Stark Gene: dcx has been classified as Green List (High Evidence).
Mendeliome v0.3973 DCX Zornitza Stark Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067
Mendeliome v0.3972 DCX Zornitza Stark Publications for gene: DCX were set to
Mendeliome v0.3971 DCX Zornitza Stark Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.3970 DCX Zornitza Stark reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: None; Publications: 10915612, 9489699, 12552055; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DCX was set to Unknown