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Autosomal recessive congenital ichthyosis v1.10 SULT2B1 Arina Puzriakova Phenotypes for gene: SULT2B1 were changed from Ichthyosis, congenital, autosomal recessive 14 617571 to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Autosomal recessive congenital ichthyosis v1.9 ALDH3A2 Denise Williams gene: ALDH3A2 was added
gene: ALDH3A2 was added to Autosomal recessive congenital ichthyosis. Sources: Expert Review
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 31273323; 27547594; 9829906
Phenotypes for gene: ALDH3A2 were set to congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies.
Penetrance for gene: ALDH3A2 were set to Complete
Review for gene: ALDH3A2 was set to GREEN
Added comment: This is a well-recognised multi-systemic condition that can present with congenital ichthyosis. Early diagnosis is important to monitor other aspects of the condition.
Sources: Expert Review
Autosomal recessive congenital ichthyosis v1.7 ISCA-37417-Loss Louise Daugherty Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Autosomal recessive congenital ichthyosis. Sources: ClinGen,Expert Review Green
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked; 308100
Autosomal recessive congenital ichthyosis SULT2B1 Sarah Leigh classified SULT2B1 as green
Autosomal recessive congenital ichthyosis SDR9C7 Sarah Leigh classified SDR9C7 as green
Autosomal recessive congenital ichthyosis SDR9C7 Sarah Leigh added SDR9C7 to panel
Autosomal recessive congenital ichthyosis SDR9C7 Sarah Leigh reviewed SDR9C7
Autosomal recessive congenital ichthyosis SULT2B1 Sarah Leigh added SULT2B1 to panel
Autosomal recessive congenital ichthyosis SULT2B1 Sarah Leigh reviewed SULT2B1