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Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Added comment: Comment on phenotypes: Added phenotypes from OMIM and Gene2Phenotype
Non-syndromic familial congenital anorectal malformations v0.104 FANCB Eleanor Williams Phenotypes for gene: FANCB were changed from Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus to Vacterl Association, X-Linked, With Or Without Hydrocephalus; anorectal malformation; VACTERL Association with Hydrocephalus; Fanconi anemia, complementation group B 300514; FANCB-RELATED FANCONI ANEMIA
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Marked gene: FANCB as ready
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Eleanor Williams Gene: fancb has been classified as Green List (High Evidence).
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Non-syndromic familial congenital anorectal malformations v0.103 FANCB Charles Shaw-Smith reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Mode of inheritance:
Non-syndromic familial congenital anorectal malformations v0.50 FANCB Eleanor Williams commented on gene: FANCB: Gene is on expert list from Dr Charles Shaw-Smith (Royal Deveon and Exeter NHS Foundation Trust)
Non-syndromic familial congenital anorectal malformations v0.48 FANCB Eleanor Williams Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations v0.47 FANCB Eleanor Williams Source Expert list was added to FANCB.
Added phenotypes anorectal malformation for gene: FANCB
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams classified FANCB as Green List (high evidence)
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams commented on gene: FANCB
Non-syndromic familial congenital anorectal malformations FANCB Eleanor Williams Added gene to panel