| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Additional findings_Adult v1.57 | COL4A3 | Zornitza Stark Marked gene: COL4A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.57 | COL4A3 | Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.57 | COL4A3 | Zornitza Stark Classified gene: COL4A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.57 | COL4A3 | Zornitza Stark Gene: col4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v1.56 | COL4A3 |
Zornitza Stark gene: COL4A3 was added gene: COL4A3 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COL4A3 were set to Alport syndrome 2, autosomal recessive, MIM# 203780 Review for gene: COL4A3 was set to GREEN Added comment: STRONG actionability by ClinGen. Although heterozygous variants can cause disease, this is typically milder, later-onset and of variable penetrance/expressivity so less suited to population screening. Screen for biallelic disease only at the moment. Referrals to renal, ophthalmology and audiology recommended. Sources: Expert list |
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