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| Ichthyosis and erythrokeratoderma v1.71 | ALDH3A2 |
Arina Puzriakova Tag Q3_21_rating was removed from gene: ALDH3A2. Tag Q3_21_NHS_review was removed from gene: ALDH3A2. |
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| Ichthyosis and erythrokeratoderma v1.71 | ALDH3A2 | Arina Puzriakova commented on gene: ALDH3A2: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.70 | ALDH3A2 |
Arina Puzriakova Source Expert Review Green was added to ALDH3A2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Ichthyosis and erythrokeratoderma v1.69 | ALDH3A2 | Arina Puzriakova Tag Q3_21_NHS_review tag was added to gene: ALDH3A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.64 | ALDH3A2 | Arina Puzriakova changed review comment from: 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.; to: 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 at the next GMS panel update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.64 | ALDH3A2 | Arina Puzriakova Classified gene: ALDH3A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.64 | ALDH3A2 | Arina Puzriakova Gene: aldh3a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.63 | ALDH3A2 | Arina Puzriakova Tag Q3_21_rating tag was added to gene: ALDH3A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.63 | ALDH3A2 | Arina Puzriakova Entity copied from Autosomal recessive congenital ichthyosis v1.13 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and erythrokeratoderma v1.63 | ALDH3A2 |
Arina Puzriakova gene: ALDH3A2 was added gene: ALDH3A2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green,Expert Review Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH3A2 were set to 9829906; 16476818; 25784589; 27547594; 29071827; 29183715; 29375833; 29704247; 30157790; 30403285; 31273323; 31388754; 31944864; 32930514; 34082469; 34315315 Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, OMIM:270200 Penetrance for gene: ALDH3A2 were set to Complete |
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