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Facial papules v0.44 IDUA Bryony Thompson Marked gene: IDUA as ready
Facial papules v0.44 IDUA Bryony Thompson Gene: idua has been classified as Green List (High Evidence).
Facial papules v0.44 IDUA Bryony Thompson Classified gene: IDUA as Green List (high evidence)
Facial papules v0.44 IDUA Bryony Thompson Gene: idua has been classified as Green List (High Evidence).
Facial papules v0.43 IDUA Bryony Thompson gene: IDUA was added
gene: IDUA was added to Facial papules. Sources: Expert list
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 20301341
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis type 1 MONDO:0001586
Review for gene: IDUA was set to GREEN
gene: IDUA was marked as current diagnostic
Added comment: Coarse facies is prevalent in severe mucopolysaccharidosis and can be present to a lesser degree in attenuated mucopolysaccharidosis.
Sources: Expert list
Facial papules v0.16 CDKN1B Bryony Thompson gene: CDKN1B was added
gene: CDKN1B was added to Facial papules and lesions. Sources: Expert list
Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CDKN1B were set to 20301710
Phenotypes for gene: CDKN1B were set to multiple endocrine neoplasia type 4 MONDO:0012552
Review for gene: CDKN1B was set to AMBER
Added comment: Overlapping phenotype with MEN1 with possible association with facial angiofibromas, but I couldn't find any evidence in the literature that these are present in individuals with MEN4.
Sources: Expert list