Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Autosomal recessive congenital ichthyosis v1.14 | ISCA-37417-Loss | Arina Puzriakova commented on Region: ISCA-37417-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Autosomal recessive congenital ichthyosis v1.14 | ISCA-37417-Loss |
Arina Puzriakova GRCh38 position for ISCA-37417-Loss was changed from 6537771-8156914 to 6537771-8156913. Required Overlap Percentage for ISCA-37417-Loss was changed from 80 to 60. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 v1.10 | 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 |