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| Autosomal recessive congenital ichthyosis v1.13 | ALDH3A2 | Arina Puzriakova Classified gene: ALDH3A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive congenital ichthyosis v1.13 | ALDH3A2 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Denise Williams (BWC_NHS). Ichthyosis is a feature of the condition associated with biallelic variants in this gene (MIM# 270200). Cutaneous abnormalities are often the first clinical sign to be noted. There are sufficient unrelated cases (>3) to rate as Green on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive congenital ichthyosis v1.13 | ALDH3A2 | Arina Puzriakova Gene: aldh3a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive congenital ichthyosis v1.12 | ALDH3A2 | Arina Puzriakova Publications for gene: ALDH3A2 were set to 31273323; 27547594; 9829906 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autosomal recessive congenital ichthyosis v1.11 | ALDH3A2 | Arina Puzriakova Phenotypes for gene: ALDH3A2 were changed from congenital ichthyosis; intellectual disability; spastic diplegia, ocular anomalies. to Sjogren-Larsson syndrome, OMIM:270200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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